Re: Possible adult mito?

[Guest guest]

a

Welcome to the group. I am glad sent you our way. We have

another a (spelled the same), so you might want to consider

using a last initial or screen name.

Your symptoms certainly sound like they could be mito. You will find

lots of information on the web-site. The list of tests is on

there.

You might want to try the MDA clinic in the area you are moving to.

Mito is one of the diseases that falls under their umbrella. There are

good and bad, but it might be a starting place for you.

Once again, welcome!

laurie

>

>

>

> Hi, I just wanted to introduce myself as I will be lurking for

> awhile, and say thank you to S. for recomending this group.

>

> I currently do not have a diagnosis, but my PCP is now looking into

> Mito issues. My name is a and I live in Kansas. I am 30

> years old and have a 7 year old son. I have been dealing with a

> multitude of symptoms since around November of 2003. My symptoms

> became severe enough to interfere with my daily life in April of

> 2004. I had been going back to college FT but was only able to

> complete 3 course hours out of 10 in the fall of 04. I have been

> unable to hold a job since.

>

> There is some evidence of mito disorders on both sides of the family.

>

> I have a maternal uncle with Parkinsons, and all of my maternal

> aunts/uncles have mitral valve prolapse or syndrome, it was severe

> enough in one of my uncles that his valve had to be replaced. My

> father has myasthenia gravis. My mother and her sister have had

> similar symptoms to mine although seem to interfere less with their

> daily living. I should also mention I have had asthma since childhood

> and during my childhood had severe food allergies and was lactose

> intolerant. I have not had problems (to my knowledge) with food

> allergies since I was about 10.

>

> So far, I have been diagnosed with internuclear ophthalmoplegia of

> the left eye, optic atrophy, left positive afferent pupillary defect,

> and left optic disc pallor temporally. I had abnormal results on VEP

> and visual field testing. I have double vision, most noticeable when

> viewing light against dark, and I have episodes of blurred vision.

> My ophthamologist believes I have occular migranes, and as of last

> week my eyes are not creating enough tears.

>

> I suffer from fatigue, more often than not it is debilitating, yet I

> have a terrible time falling asleep and staying asleep. I have

> visable muscle spasms and twitching which worsens after activity and

> includes a burning sensation, I have some myclonic activity. I

> believe I have IBS do to frequent cyclic bouts of dirrhea, I have had

> bouts of incoordination resulting in falls, I have difficulty speaking

> (slurring and misuse of words), I have difficulty comprehending

> simple written directions, I have a host of sensory symptoms

> (pins/needles, electric shocks, stabbing pains), and I have no

> patellar or achilles reflex in my right leg. The last 6 weeks or so

> I have been waking up coughing and gagging, almost like inhaling a

> piece of dust. I also have tiny red dots (they are not raised) on

> the top of my left hand. They do not itch and you can't feel them.

> I have no idea what those are about. Most of my symptoms come and go,

> but I always have the vision problems, muscle spasms,and fatigue.

> The others come and go at random. Sometime lasting for short

> periods, sometimes hanging around for weeks.

>

> I have been tested for the obvious, diabetes, thyroid, hormone,

> arthritis, fibro, chronic fatigue, lupus, syphillis, multiple

> sclerosis, etc. all negative. I have had the basic CBC, CPK, and

> Metabolic profile. The only thing that showed was I am borderline

> malnourished. A cross-reactivity test for West Nile last May showed

> elevated serum IgG levels, but none of the doctors I have seen

> believe anything is related to West Nile.

>

> I switched PCP's in January because my last one chalked my symptoms

> up to being mental after my MS tests came back normal. My current

> PCP is wonderful, and has been willing to research or consider

> anything reasonable I bring to him. I am a little concerned because

> I will be moving to another town in June, and am afraid to have to

> start all over. My current PCP is reasearching MITO but told me he

> is clueless about it (his own words). I was wondering if this sounds

> like a mito issue, and if anyone has any ideas what sort

> of testing should be done or which particular disorders/disease

> should my doctor be looking at?

>

> Any thoughts greatly appreciated!

>

> a

>

>

>

>

>

>

>

>

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail

> is entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with

> their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

[Guest guest]

a, Interested in your post. I am in Lawrence and have two forms of

mitochondrial disease. I turn 60 this year and have had active symptoms

since I was 19. If you are interested, I can put you in touch with the

Kansas City mito support group. The president is a former pediatrician with

mito. Depending on where you are in Kansas, they may be able to direct you

to help with referrals and diagnosis. I have gone to KUMC for many years but

in the last two years have tried to move most of my care to Lawrence---just

too hard to get into KC anymore. My local doctors are willing to learn and

ARE learning bit by bit, and best of all they are very willing to go the

extra mile to help--which became very clear just three weeks ago with an

unexpected hospitalization and surgery.

Welcome to the group and let me know if you would like more info about local

doctors and the KC mito support group.

Take care,

Barbara

_____

From: [mailto: ] On Behalf

Of onefulloffaith

Sent: Monday, April 18, 2005 11:11 PM

To:

Subject: Possible adult mito?

Hi, I just wanted to introduce myself as I will be lurking for

awhile, and say thank you to S. for recomending this group.

I currently do not have a diagnosis, but my PCP is now looking into

Mito issues. My name is a and I live in Kansas. I am 30

years old and have a 7 year old son. I have been dealing with a

multitude of symptoms since around November of 2003. My symptoms

became severe enough to interfere with my daily life in April of

2004. I had been going back to college FT but was only able to

complete 3 course hours out of 10 in the fall of 04. I have been

unable to hold a job since.

There is some evidence of mito disorders on both sides of the family.

I have a maternal uncle with Parkinsons, and all of my maternal

aunts/uncles have mitral valve prolapse or syndrome, it was severe

enough in one of my uncles that his valve had to be replaced. My

father has myasthenia gravis. My mother and her sister have had

similar symptoms to mine although seem to interfere less with their

daily living. I should also mention I have had asthma since childhood

and during my childhood had severe food allergies and was lactose

intolerant. I have not had problems (to my knowledge) with food

allergies since I was about 10.

So far, I have been diagnosed with internuclear ophthalmoplegia of

the left eye, optic atrophy, left positive afferent pupillary defect,

and left optic disc pallor temporally. I had abnormal results on VEP

and visual field testing. I have double vision, most noticeable when

viewing light against dark, and I have episodes of blurred vision.

My ophthamologist believes I have occular migranes, and as of last

week my eyes are not creating enough tears.

I suffer from fatigue, more often than not it is debilitating, yet I

have a terrible time falling asleep and staying asleep. I have

visable muscle spasms and twitching which worsens after activity and

includes a burning sensation, I have some myclonic activity. I

believe I have IBS do to frequent cyclic bouts of dirrhea, I have had

bouts of incoordination resulting in falls, I have difficulty speaking

(slurring and misuse of words), I have difficulty comprehending

simple written directions, I have a host of sensory symptoms

(pins/needles, electric shocks, stabbing pains), and I have no

patellar or achilles reflex in my right leg. The last 6 weeks or so

I have been waking up coughing and gagging, almost like inhaling a

piece of dust. I also have tiny red dots (they are not raised) on

the top of my left hand. They do not itch and you can't feel them.

I have no idea what those are about. Most of my symptoms come and go,

but I always have the vision problems, muscle spasms,and fatigue.

The others come and go at random. Sometime lasting for short

periods, sometimes hanging around for weeks.

I have been tested for the obvious, diabetes, thyroid, hormone,

arthritis, fibro, chronic fatigue, lupus, syphillis, multiple

sclerosis, etc. all negative. I have had the basic CBC, CPK, and

Metabolic profile. The only thing that showed was I am borderline

malnourished. A cross-reactivity test for West Nile last May showed

elevated serum IgG levels, but none of the doctors I have seen

believe anything is related to West Nile.

I switched PCP's in January because my last one chalked my symptoms

up to being mental after my MS tests came back normal. My current

PCP is wonderful, and has been willing to research or consider

anything reasonable I bring to him. I am a little concerned because

I will be moving to another town in June, and am afraid to have to

start all over. My current PCP is reasearching MITO but told me he

is clueless about it (his own words). I was wondering if this sounds

like a mito issue, and if anyone has any ideas what sort

of testing should be done or which particular disorders/disease

should my doctor be looking at?

Any thoughts greatly appreciated!

a

Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail

is entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with

their physicians regarding changes in their own treatment.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

_____

[Guest guest]

a, Interested in your post. I am in Lawrence and have two forms of

mitochondrial disease. I turn 60 this year and have had active symptoms

since I was 19. If you are interested, I can put you in touch with the

Kansas City mito support group. The president is a former pediatrician with

mito. Depending on where you are in Kansas, they may be able to direct you

to help with referrals and diagnosis. I have gone to KUMC for many years but

in the last two years have tried to move most of my care to Lawrence---just

too hard to get into KC anymore. My local doctors are willing to learn and

ARE learning bit by bit, and best of all they are very willing to go the

extra mile to help--which became very clear just three weeks ago with an

unexpected hospitalization and surgery.

Welcome to the group and let me know if you would like more info about local

doctors and the KC mito support group.

Take care,

Barbara

_____

From: [mailto: ] On Behalf

Of onefulloffaith

Sent: Monday, April 18, 2005 11:11 PM

To:

Subject: Possible adult mito?

Hi, I just wanted to introduce myself as I will be lurking for

awhile, and say thank you to S. for recomending this group.

I currently do not have a diagnosis, but my PCP is now looking into

Mito issues. My name is a and I live in Kansas. I am 30

years old and have a 7 year old son. I have been dealing with a

multitude of symptoms since around November of 2003. My symptoms

became severe enough to interfere with my daily life in April of

2004. I had been going back to college FT but was only able to

complete 3 course hours out of 10 in the fall of 04. I have been

unable to hold a job since.

There is some evidence of mito disorders on both sides of the family.

I have a maternal uncle with Parkinsons, and all of my maternal

aunts/uncles have mitral valve prolapse or syndrome, it was severe

enough in one of my uncles that his valve had to be replaced. My

father has myasthenia gravis. My mother and her sister have had

similar symptoms to mine although seem to interfere less with their

daily living. I should also mention I have had asthma since childhood

and during my childhood had severe food allergies and was lactose

intolerant. I have not had problems (to my knowledge) with food

allergies since I was about 10.

So far, I have been diagnosed with internuclear ophthalmoplegia of

the left eye, optic atrophy, left positive afferent pupillary defect,

and left optic disc pallor temporally. I had abnormal results on VEP

and visual field testing. I have double vision, most noticeable when

viewing light against dark, and I have episodes of blurred vision.

My ophthamologist believes I have occular migranes, and as of last

week my eyes are not creating enough tears.

I suffer from fatigue, more often than not it is debilitating, yet I

have a terrible time falling asleep and staying asleep. I have

visable muscle spasms and twitching which worsens after activity and

includes a burning sensation, I have some myclonic activity. I

believe I have IBS do to frequent cyclic bouts of dirrhea, I have had

bouts of incoordination resulting in falls, I have difficulty speaking

(slurring and misuse of words), I have difficulty comprehending

simple written directions, I have a host of sensory symptoms

(pins/needles, electric shocks, stabbing pains), and I have no

patellar or achilles reflex in my right leg. The last 6 weeks or so

I have been waking up coughing and gagging, almost like inhaling a

piece of dust. I also have tiny red dots (they are not raised) on

the top of my left hand. They do not itch and you can't feel them.

I have no idea what those are about. Most of my symptoms come and go,

but I always have the vision problems, muscle spasms,and fatigue.

The others come and go at random. Sometime lasting for short

periods, sometimes hanging around for weeks.

I have been tested for the obvious, diabetes, thyroid, hormone,

arthritis, fibro, chronic fatigue, lupus, syphillis, multiple

sclerosis, etc. all negative. I have had the basic CBC, CPK, and

Metabolic profile. The only thing that showed was I am borderline

malnourished. A cross-reactivity test for West Nile last May showed

elevated serum IgG levels, but none of the doctors I have seen

believe anything is related to West Nile.

I switched PCP's in January because my last one chalked my symptoms

up to being mental after my MS tests came back normal. My current

PCP is wonderful, and has been willing to research or consider

anything reasonable I bring to him. I am a little concerned because

I will be moving to another town in June, and am afraid to have to

start all over. My current PCP is reasearching MITO but told me he

is clueless about it (his own words). I was wondering if this sounds

like a mito issue, and if anyone has any ideas what sort

of testing should be done or which particular disorders/disease

should my doctor be looking at?

Any thoughts greatly appreciated!

a

Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail

is entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with

their physicians regarding changes in their own treatment.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

_____

[Guest guest]

Hi, a

Just want to welcome you to the group. I am a " newbie " here myself,

and still learning. People here are great, and I have been grateful

for all the information and morale support they give. Sometimes it

just helps to know that I am not the only one having some of the

experiences that are unique to those of us with " unusual "

presentations. And mito sure fits into that category. Try to get as

informed as you can, from as many different sources as possible, this

being one of them. I will leave specifics to others, since they are

more informed than I am frequently. Again, welcome.

Hi, Barbara

I am so glad to see you. Hope you are getting relief and recovery from

that dreadful kidney situation, on top of your other surgery. You have

been in my thoughts. Take care.

Sunny

>

[Guest guest]

Thanks, Sunny. Definitely doing better. What a relief!

B

_____

*

Hi, Barbara

I am so glad to see you. Hope you are getting relief and recovery from

that dreadful kidney situation, on top of your other surgery. You have

been in my thoughts. Take care.

Sunny

[Guest guest]

First, welcome to the group, a.

But I have a question for Barbara - what do you mean you have two

forms of mito? Do you mean they found two genetic defects, or

defects in more than one complex?

Just wondering,

RH

> a, Interested in your post. I am in Lawrence and have two

forms of

> mitochondrial disease. I turn 60 this year and have had active

symptoms

> since I was 19. If you are interested, I can put you in touch with

the

> Kansas City mito support group. The president is a former

pediatrician with

> mito. Depending on where you are in Kansas, they may be able to

direct you

> to help with referrals and diagnosis. I have gone to KUMC for many

years but

> in the last two years have tried to move most of my care to

Lawrence---just

> too hard to get into KC anymore. My local doctors are willing to

learn and

> ARE learning bit by bit, and best of all they are very willing to

go the

> extra mile to help--which became very clear just three weeks ago

with an

> unexpected hospitalization and surgery.

>

>

>

> Welcome to the group and let me know if you would like more info

about local

> doctors and the KC mito support group.

>

>

>

> Take care,

>

> Barbara

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of onefulloffaith

> Sent: Monday, April 18, 2005 11:11 PM

> To:

> Subject: Possible adult mito?

>

>

>

>

>

> Hi, I just wanted to introduce myself as I will be lurking for

> awhile, and say thank you to S. for recomending this group.

>

> I currently do not have a diagnosis, but my PCP is now looking into

> Mito issues. My name is a and I live in Kansas. I am 30

> years old and have a 7 year old son. I have been dealing with a

> multitude of symptoms since around November of 2003. My symptoms

> became severe enough to interfere with my daily life in April of

> 2004. I had been going back to college FT but was only able to

> complete 3 course hours out of 10 in the fall of 04. I have been

> unable to hold a job since.

>

> There is some evidence of mito disorders on both sides of the

family.

>

> I have a maternal uncle with Parkinsons, and all of my maternal

> aunts/uncles have mitral valve prolapse or syndrome, it was severe

> enough in one of my uncles that his valve had to be replaced. My

> father has myasthenia gravis. My mother and her sister have had

> similar symptoms to mine although seem to interfere less with their

> daily living. I should also mention I have had asthma since

childhood

> and during my childhood had severe food allergies and was lactose

> intolerant. I have not had problems (to my knowledge) with food

> allergies since I was about 10.

>

> So far, I have been diagnosed with internuclear ophthalmoplegia of

> the left eye, optic atrophy, left positive afferent pupillary

defect,

> and left optic disc pallor temporally. I had abnormal results on

VEP

> and visual field testing. I have double vision, most noticeable

when

> viewing light against dark, and I have episodes of blurred vision.

> My ophthamologist believes I have occular migranes, and as of last

> week my eyes are not creating enough tears.

>

> I suffer from fatigue, more often than not it is debilitating, yet

I

> have a terrible time falling asleep and staying asleep. I have

> visable muscle spasms and twitching which worsens after activity

and

> includes a burning sensation, I have some myclonic activity. I

> believe I have IBS do to frequent cyclic bouts of dirrhea, I have

had

> bouts of incoordination resulting in falls, I have difficulty

speaking

> (slurring and misuse of words), I have difficulty comprehending

> simple written directions, I have a host of sensory symptoms

> (pins/needles, electric shocks, stabbing pains), and I have no

> patellar or achilles reflex in my right leg. The last 6 weeks or

so

> I have been waking up coughing and gagging, almost like inhaling a

> piece of dust. I also have tiny red dots (they are not raised) on

> the top of my left hand. They do not itch and you can't feel

them.

> I have no idea what those are about. Most of my symptoms come and

go,

> but I always have the vision problems, muscle spasms,and fatigue.

> The others come and go at random. Sometime lasting for short

> periods, sometimes hanging around for weeks.

>

> I have been tested for the obvious, diabetes, thyroid, hormone,

> arthritis, fibro, chronic fatigue, lupus, syphillis, multiple

> sclerosis, etc. all negative. I have had the basic CBC, CPK, and

> Metabolic profile. The only thing that showed was I am borderline

> malnourished. A cross-reactivity test for West Nile last May

showed

> elevated serum IgG levels, but none of the doctors I have seen

> believe anything is related to West Nile.

>

> I switched PCP's in January because my last one chalked my symptoms

> up to being mental after my MS tests came back normal. My current

> PCP is wonderful, and has been willing to research or consider

> anything reasonable I bring to him. I am a little concerned

because

> I will be moving to another town in June, and am afraid to have to

> start all over. My current PCP is reasearching MITO but told me he

> is clueless about it (his own words). I was wondering if this

sounds

> like a mito issue, and if anyone has any ideas what sort

> of testing should be done or which particular disorders/disease

> should my doctor be looking at?

>

> Any thoughts greatly appreciated!

>

> a

>

>

>

>

>

>

>

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements

contained herein

> are not necessarily those of the list moderators. The author of

this e mail

> is entirely responsible for its content. List members are reminded

of their

> responsibility to evaluate the content of the postings and consult

with

> their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends

one is

> automatically moderated or removed depending on the severity of the

attack.

>

>

>

>

>

> _____

>

>

[Guest guest]

RH, I've posted this before and thought perhaps people were getting tired of

rereading it all once again, so I mentioned the bare minimum. For now, I

will just cut and paste two paragraphs from my emergency packet and if you

have further questions, I can answer them. Here goes:

Patient has two co-existing mitochondrial disorders:

1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983 by

Salvatore DiMauro, MD, Columbia University, New York and Herbert Lindsley,

MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT deficiency is

an inborn error in fat metabolism causing mitochondrial myopathy.

For more information on CPT Deficiency, visit www.spiralnotebook.org

2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain enzymes

in complexes I-IV reduced to 22 - 49% of normal as determined by Georgirene

D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional fibroblast

studies of nine beta-oxidation enzymes by , PhD, Houston, TX,

found all were reduced to 29-66% of normal. Underlying genetic defect is

thought to be in mitochondrial transport, possibly one of the heat shock

proteins, but this remains undefined. The second mitochondrial defect is

thought to cause the majority of the patient's symptoms, which include

muscle weakness and pain, myoclonus, nausea, attacks of abdominal pain, GI

dysfunction, hypoglycemia, neuropathy and stroke-like events.

For more information on respiratory chain disorders, visit

http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

Foundation)

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 12:49 PM

To:

Subject: Re: Possible adult mito?

First, welcome to the group, a.

But I have a question for Barbara - what do you mean you have two

forms of mito? Do you mean they found two genetic defects, or

defects in more than one complex?

Just wondering,

RH

*

[Guest guest]

RH, I've posted this before and thought perhaps people were getting tired of

rereading it all once again, so I mentioned the bare minimum. For now, I

will just cut and paste two paragraphs from my emergency packet and if you

have further questions, I can answer them. Here goes:

Patient has two co-existing mitochondrial disorders:

1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983 by

Salvatore DiMauro, MD, Columbia University, New York and Herbert Lindsley,

MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT deficiency is

an inborn error in fat metabolism causing mitochondrial myopathy.

For more information on CPT Deficiency, visit www.spiralnotebook.org

2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain enzymes

in complexes I-IV reduced to 22 - 49% of normal as determined by Georgirene

D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional fibroblast

studies of nine beta-oxidation enzymes by , PhD, Houston, TX,

found all were reduced to 29-66% of normal. Underlying genetic defect is

thought to be in mitochondrial transport, possibly one of the heat shock

proteins, but this remains undefined. The second mitochondrial defect is

thought to cause the majority of the patient's symptoms, which include

muscle weakness and pain, myoclonus, nausea, attacks of abdominal pain, GI

dysfunction, hypoglycemia, neuropathy and stroke-like events.

For more information on respiratory chain disorders, visit

http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

Foundation)

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 12:49 PM

To:

Subject: Re: Possible adult mito?

First, welcome to the group, a.

But I have a question for Barbara - what do you mean you have two

forms of mito? Do you mean they found two genetic defects, or

defects in more than one complex?

Just wondering,

RH

*

[Guest guest]

a,

From one a to another, welcome to the group. I am 28 and

have had a diagnosis since 18. Not many of my doctors know a lot about

mito either. Some are willing to learn and others are not. You are not

alone in your experience with your first PCP. Many people on this list

have been told that this is " all in your head " . Believe me, it is not.

Your symptoms do sound like it could be mito. Again, welcome to the

group, as it is made up of very caring and knowledgeable people.

Smiles,

a K.

On Tue, 19 Apr 2005 04:11:19 -0000 " onefulloffaith "

onefulloffaith@...> writes:

Hi, I just wanted to introduce myself as I will be lurking for

awhile, and say thank you to S. for recomending this group.

I currently do not have a diagnosis, but my PCP is now looking into

Mito issues. My name is a and I live in Kansas. I am 30

years old and have a 7 year old son. I have been dealing with a

multitude of symptoms since around November of 2003. My symptoms

became severe enough to interfere with my daily life in April of

2004. I had been going back to college FT but was only able to

complete 3 course hours out of 10 in the fall of 04. I have been

unable to hold a job since.

There is some evidence of mito disorders on both sides of the family.

I have a maternal uncle with Parkinsons, and all of my maternal

aunts/uncles have mitral valve prolapse or syndrome, it was severe

enough in one of my uncles that his valve had to be replaced. My

father has myasthenia gravis. My mother and her sister have had

similar symptoms to mine although seem to interfere less with their

daily living. I should also mention I have had asthma since childhood

and during my childhood had severe food allergies and was lactose

intolerant. I have not had problems (to my knowledge) with food

allergies since I was about 10.

So far, I have been diagnosed with internuclear ophthalmoplegia of

the left eye, optic atrophy, left positive afferent pupillary defect,

and left optic disc pallor temporally. I had abnormal results on VEP

and visual field testing. I have double vision, most noticeable when

viewing light against dark, and I have episodes of blurred vision.

My ophthamologist believes I have occular migranes, and as of last

week my eyes are not creating enough tears.

I suffer from fatigue, more often than not it is debilitating, yet I

have a terrible time falling asleep and staying asleep. I have

visable muscle spasms and twitching which worsens after activity and

includes a burning sensation, I have some myclonic activity. I

believe I have IBS do to frequent cyclic bouts of dirrhea, I have had

bouts of incoordination resulting in falls, I have difficulty speaking

(slurring and misuse of words), I have difficulty comprehending

simple written directions, I have a host of sensory symptoms

(pins/needles, electric shocks, stabbing pains), and I have no

patellar or achilles reflex in my right leg. The last 6 weeks or so

I have been waking up coughing and gagging, almost like inhaling a

piece of dust. I also have tiny red dots (they are not raised) on

the top of my left hand. They do not itch and you can't feel them.

I have no idea what those are about. Most of my symptoms come and go,

but I always have the vision problems, muscle spasms,and fatigue.

The others come and go at random. Sometime lasting for short

periods, sometimes hanging around for weeks.

I have been tested for the obvious, diabetes, thyroid, hormone,

arthritis, fibro, chronic fatigue, lupus, syphillis, multiple

sclerosis, etc. all negative. I have had the basic CBC, CPK, and

Metabolic profile. The only thing that showed was I am borderline

malnourished. A cross-reactivity test for West Nile last May showed

elevated serum IgG levels, but none of the doctors I have seen

believe anything is related to West Nile.

I switched PCP's in January because my last one chalked my symptoms

up to being mental after my MS tests came back normal. My current

PCP is wonderful, and has been willing to research or consider

anything reasonable I bring to him. I am a little concerned because

I will be moving to another town in June, and am afraid to have to

start all over. My current PCP is reasearching MITO but told me he

is clueless about it (his own words). I was wondering if this sounds

like a mito issue, and if anyone has any ideas what sort

of testing should be done or which particular disorders/disease

should my doctor be looking at?

Any thoughts greatly appreciated!

a

[Guest guest]

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

No, beta oxidation enzymes are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

No, beta oxidation enzymes are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

Hi, I'm so glad to see you are doing better and was saddened to hear that you

were having problems again. I have definitely kept you in my thoughts and

prayers. I hope your health will remain as good as possible. I always feel so

lost as most everyone else is from back east and the doctors names are all greek

to me. I am in hopes that a (who I read is also from Kansas) will be

able to find the info she is needing. I have a lot of web addresses, but I am

not really sure if I can post them in e-mails as I notice many that

contain nothing but the note at the end of each e-mail. Again, I am happy that

you doing somewhat better and I sincerely hope that good luck will come your way

and the sun will again shine in all your windows with no more clouds blocking

out the sunlight. You have been struggling with this disorder for so very many

years that it is about time that you had a good break and God willing that will

happen. Dolores

Barbara Seaman wheatchild@...> wrote:No, beta oxidation enzymes

are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

Thank you for your very kind words. The sun IS shining in Lawrence today,

both inside and outside! May it be so for you too.

Hugs,

Barbara

_____

From: [mailto: ] On Behalf

Of Dolores

Sent: Tuesday, April 19, 2005 6:49 PM

To:

Subject: RE: Possible adult mito?

Hi, I'm so glad to see you are doing better and was saddened to hear that

you were having problems again. I have definitely kept you in my thoughts

and prayers. I hope your health will remain as good as possible. I always

feel so lost as most everyone else is from back east and the doctors names

are all greek to me. I am in hopes that a (who I read is also from

Kansas) will be able to find the info she is needing. I have a lot of web

addresses, but I am not really sure if I can post them in e-mails

as I notice many that contain nothing but the note at the end of each

e-mail. Again, I am happy that you doing somewhat better and I sincerely

hope that good luck will come your way and the sun will again shine in all

your windows with no more clouds blocking out the sunlight. You have been

struggling with this disorder for so very many years that it is about time

that you had a good break and God willing that will happen. Dolores

Barbara Seaman wheatchild@...> wrote:No, beta oxidation

enzymes are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

That is a wonderful start~ It has been in and out in Topeka.

Barbara Seaman wheatchild@...> wrote:Thank you for your very kind

words. The sun IS shining in Lawrence today,

both inside and outside! May it be so for you too.

Hugs,

Barbara

_____

From: [mailto: ] On Behalf

Of Dolores

Sent: Tuesday, April 19, 2005 6:49 PM

To:

Subject: RE: Possible adult mito?

Hi, I'm so glad to see you are doing better and was saddened to hear that

you were having problems again. I have definitely kept you in my thoughts

and prayers. I hope your health will remain as good as possible. I always

feel so lost as most everyone else is from back east and the doctors names

are all greek to me. I am in hopes that a (who I read is also from

Kansas) will be able to find the info she is needing. I have a lot of web

addresses, but I am not really sure if I can post them in e-mails

as I notice many that contain nothing but the note at the end of each

e-mail. Again, I am happy that you doing somewhat better and I sincerely

hope that good luck will come your way and the sun will again shine in all

your windows with no more clouds blocking out the sunlight. You have been

struggling with this disorder for so very many years that it is about time

that you had a good break and God willing that will happen. Dolores

Barbara Seaman wheatchild@...> wrote:No, beta oxidation

enzymes are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>

[Guest guest]

That is a wonderful start~ It has been in and out in Topeka.

Barbara Seaman wheatchild@...> wrote:Thank you for your very kind

words. The sun IS shining in Lawrence today,

both inside and outside! May it be so for you too.

Hugs,

Barbara

_____

From: [mailto: ] On Behalf

Of Dolores

Sent: Tuesday, April 19, 2005 6:49 PM

To:

Subject: RE: Possible adult mito?

Hi, I'm so glad to see you are doing better and was saddened to hear that

you were having problems again. I have definitely kept you in my thoughts

and prayers. I hope your health will remain as good as possible. I always

feel so lost as most everyone else is from back east and the doctors names

are all greek to me. I am in hopes that a (who I read is also from

Kansas) will be able to find the info she is needing. I have a lot of web

addresses, but I am not really sure if I can post them in e-mails

as I notice many that contain nothing but the note at the end of each

e-mail. Again, I am happy that you doing somewhat better and I sincerely

hope that good luck will come your way and the sun will again shine in all

your windows with no more clouds blocking out the sunlight. You have been

struggling with this disorder for so very many years that it is about time

that you had a good break and God willing that will happen. Dolores

Barbara Seaman wheatchild@...> wrote:No, beta oxidation

enzymes are not the same enzymes found in the respiratory

chain complexes. Beta oxidation is another metabolic cycle that takes place

in the mitochondria. My deficiencies span three separate metabolic cycles:

Krebs, beta oxidation and respiratory chain. All mitochondrial enzymes

assayed in those three cycles have been deficient-close to 20 total have

been assayed individually. Enzymes from non-mitochondrial metabolic cycles

are normal or above normal. Therefore, the researchers working on my case

feel these results demonstrate that the defect is limited to the

mitochondria. Such cases are rare, and of the handful that have been

reported, the underlying defects are in one of the heat shock proteins--in

other words, mitochondrial transport. HSPs serve as chaperones for moving

proteins in and out of the mitochondria. If one HSP is deficient, mito

transport is impaired and many proteins cannot get into the mitochondria in

adequate amounts. Thus, the global deficiencies in the mitochondria. I have

been screened for mutations in HSP60 and HSP70 by the HSP research team in

Denmark, but so far we have not found the underlying mutation. The science

of mitochondrial transport is so newborn that many biochemical chaperones

are not even identified yet-many new ones still being discovered-let alone

disorders in those individual proteins identified and mutations confirmed. I

am waiting for technology to further define the disorder. It may be a long

wait. At this point, I am very fortunate to have this much definition.

Actually, such cases may not be so rare, but few patients get the kind of

testing necessary. Researchers can only work on a few cases and generally

choose those that they feel will break new ground.

No, HSPs are not responsible for both conditions. I do carry the R503C

mutation in the CPT2 gene. However, half of the CPT deficiency comes from

the global defect, which is why CPT activity is lower than any of the other

deficiencies that result from the global defect. The original CPT diagnosis

in 1983 looked like I was a " typical " homozygote for CPT at 10%, and that

was DiMauro's assumption at the time. (He did also find a 50% deficiency of

carnitine, but assumed it was secondary to primary CPT and that he had

identified the extent of the problem. ) However, my history was never

remotely typical of CPT, so we kept looking for other answers and eventually

researchers found evidence of the second defect. My peculiar molecular

biochemistry has caused them to coin a new genetic term: " biochemical

pseudo-homozygote. " What that means is this: Just looking at CPT activity,

it appeared that I was a homozygote (carrying two copies of a

disease-causing mutation). But in sequencing my entire CPT2 gene (not once

but twice), they proved that I was not. I carry only one copy of R503C and

no other CPT2 disease-causing mutations, though I do carry two CPT2

polymorphisms. So---bottom line---two separate mitochondrial disorders, two

different mutations in two different proteins (one identified, one

presumed), with biochemical consequences that overlap. If this sounds

complicated, it is. They use my case in teaching genetics classes to medical

students just to warn them that appearances can be deceiving.

As for DiMauro, my docs were in touch with him off and on for many years. I

did correspond with him a few times, and others keep him updated on my case.

He offered an opinion two or three years back regarding my meningioma that

was helpful. The 1985 NIH study of our family with Dalakas also involved

DiMauro. He got most of the muscle tissue from that study.

I don't know if I answered all the questions....but your eyes are probably

glazed over now anyway... :-)

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, April 19, 2005 4:39 PM

To:

Subject: Re: Possible adult mito?

I guess I'm not as observant as I thought - I've never seen it before

(watch, someone will pull up a post from me about it I've never

heard of " global mitochondrial defect " - my doctors use the

term " mitochondrial " then a second word defining where the symptoms

are at, e.g., myopathy, encephalopathy, cytopathy, endocrinopathy.

Now I just go by " mitochondrial encephalomyopathy, Complex I defect,

MELAS phenotype " .

Maybe you or someone else can answer if beta-oxidation enzymes are

the same as the complexes. I don't know what heat shock proteins

are, but I do recall that you mentioned them recently regarding

autoimmune (I think!). I wonder if heat shock proteins could be

responsible for both conditions, or if one condition leads directly

to the other.

I am also curious - were you able to get a follow-up from Columbia-

Presbyterian, or is a local doctor treating your mito?

As a side note, I almost certainly don't have the first problem, as

it says prolonged exercise makes CPT deficiency worse - I do a lot

better with prolonged exercise, and poorly with light exercise even

for only a few minutes.

Thanks,

RH

> RH, I've posted this before and thought perhaps people were getting

tired of

> rereading it all once again, so I mentioned the bare minimum. For

now, I

> will just cut and paste two paragraphs from my emergency packet and

if you

> have further questions, I can answer them. Here goes:

>

>

>

> Patient has two co-existing mitochondrial disorders:

>

>

>

> 1. Carnitine Palmitoyltransferase II Deficiency. Diagnosed 1983

by

> Salvatore DiMauro, MD, Columbia University, New York and Herbert

Lindsley,

> MD, KUMC. CPT activity in muscle reduced to 10% of normal. CPT

deficiency is

> an inborn error in fat metabolism causing mitochondrial myopathy.

>

> For more information on CPT Deficiency, visit

www.spiralnotebook.org

>

>

>

> 2. Global Mitochondrial Defect. Diagnosed 1998. Respiratory chain

enzymes

> in complexes I-IV reduced to 22 - 49% of normal as determined by

Georgirene

> D. Vladutiu, PhD, Buffalo, NY, via muscle biopsy. Additional

fibroblast

> studies of nine beta-oxidation enzymes by , PhD,

Houston, TX,

> found all were reduced to 29-66% of normal. Underlying genetic

defect is

> thought to be in mitochondrial transport, possibly one of the heat

shock

> proteins, but this remains undefined. The second mitochondrial

defect is

> thought to cause the majority of the patient's symptoms, which

include

> muscle weakness and pain, myoclonus, nausea, attacks of abdominal

pain, GI

> dysfunction, hypoglycemia, neuropathy and stroke-like events.

>

> For more information on respiratory chain disorders, visit

> http://www.umdf.org/> www.umdf.org (United Mitochondrial Disease

> Foundation)

>

>

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of ohgminion

> Sent: Tuesday, April 19, 2005 12:49 PM

> To:

> Subject: Re: Possible adult mito?

>

>

>

>

> First, welcome to the group, a.

>

> But I have a question for Barbara - what do you mean you have two

> forms of mito? Do you mean they found two genetic defects, or

> defects in more than one complex?

>

> Just wondering,

> RH

>

>

>

>

> *

>

>

>

>