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Hi RH

I've been thinking of responding to this question of yours, for sometime,

but I thought my personal response probably wouldn't be too helpful. Also

every time I re-read my incredibly useful textbook, my head spins with the

knowledge I've acquired and my humility at the knowledge I haven't acquired.

Nonetheless, here's my contribution:

For me, I think acetyl-L-carnitine helps, and it is considerably better than

plain old L-carnitine. I should point out that I believe MY mito is mainly

FAO only (as evidenced by AMONG OTHER THINGS high triglycerides but normal

LDL and oddly low HDL). I also have extreme exertional fatigue so I probably

have other OXPHOS defects, but I know I have the FAO defects. I say this

because, as I'm sure you know, carnitine is absolutely necessary for

transporting long and most medium chain fatty acids across the outer and

inner mitochondrial membranes (both ways: fatty acids in, byproducts out). I

understand that the acetyl variant of carnitine is the only type that can

cross the blood-brain barrier, but I don't understand why that matters here,

because the brain uses ONLY glucose and doesn't do FAO.

I've experimented a lot with supplements. It's really difficult to tell what

helps, in most cases, because I have a (seemingly random) very wide range of

good days and bad days, as well as good months and bad months. There's too

many variables, including when and what I eat, when and how much I sleep, my

exercise (duration, timing), the season of the year, etc. And I just can't

" afford " the time to try each permutation of supplements for several months.

I have been taking these five per day for a good while now, and I believe

I've finally tuned it in somewhat, for best effect:

one high-strength multivitamin

one 325 mg. aspirin

twice daily CoQ10, 480 mg. per day total

twice daily acetyl-L-carnitine, 2000 mg. per day total

twice daily Pancreatin, 3000 " equivalent " mg. per day total

At least once I did a rather long-term trial, substituting plain carnintine

for the acetyl type, and then back again. Of all my symptoms, the ONLY help

that I can attribute to the acetyl type is the " generalized sensations " . By

this I mean that especially exertional fatigue and peripheral neuropathy

were NOT affected. I did have considerably lessened SENSATIONS of feeling

dizzy, clumsy, groggy, etc. Also, on plain old carnitine, by the time I felt

an exertional crash coming on it would be too late, and I would be very

likely to suddenly fall down, and a couple of times, actually pass out. On

acetyl carnitine, I would sense this crash earlier and have a chance to sit

down and let it pass. Sometimes now I can even STAND and let it pass. It

seems different now, like my brain is a little better but my muscles and

overal metabolism are still in trouble.

BTW the pancreatin is on the advice and success of several people with forms

of " runaway " lipomas, like me. Pancreatin is a brew of enzymes that

primarily assist the pancreas but also affect the liver and other digestive

organs. I have fatty liver (hepatic steatosis) diagnosed by ultrasound.

This, the lipomas, and some other evidence suggests a " gumming up " of my

entire body's fatty acid storage and release mechanism (in adipose tissue,

and the liver). I believe this is secondary to FAO defects. Sort of like

what you do if you're in a car and speeding up because your foot is pressing

the accelerator when you think it's the brake. At first, you naturally press

HARDER on the " brake " , not realizing that it is causing you to speed up even

more. I've also heard the analogy of " pushing on a string " i.e. it's not

going to work if something further down the way isn't taking up the slack.

Instead it just " backs up " , as floppy string.

I've looked all over, and the best price (counting shipping) I've found is

http://www.swansonvitamins.com/webapp/wcs/stores/servlet/ProductDisplay?storeId=\

10001&langId=-1&catalogId=10051&productId=16050

their product code SW1000. This item is also on their " second bottle for

$.01 " deal. That would be $20 total, for 200 500 mg. caps. Caveat: when I

ordered a while back, their actual storefront wasn't honoring this deal

properly, but an email to customer service brought immediate correction.

Sorry, a bit muddled, hope the above helps some.

Steve D.

> From: " ohgminion "

> Date: Sat Apr 16, 2005 9:03 am

> Subject: Re: statins

> I got seizures on a starting dose of Carnitor (I'm thinking 1 tsp. of

> the liquid each day, not sure what that would add up to in mg of

> carnitine). Much less than 990 mg?

> I'm wondering, is anyone on acetyl-L-carnitine? I haven't tried it,

> but I'm thinking it might work better for me than carnitine.

> Thanks,

> RH

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In a message dated 5/1/2005 7:42:59 PM Eastern Standard Time,

wheatchild@... writes:

Though I believe in some cases of FAOs where there is serious brain

pathology, it is attributed to a secondary lack of glucose due to impaired

gluconeogenesis in liver.

Hi Barbara,

I don't know much about FAOs but was recently found to have lab

abnormalities in my fatty acid oxidation labs ONLY when fasting. When I get

enough

calories in my TPN, my labs look normal. My mito doctor said the following

which

may answer your question to some degree--

" Since fatty acid oxidation is often dysfunctional secondary to the

mitochondrial disease, this creates a situation where she hasn't enough glucose

to

support CNS function and also indequate other substrate for energy purposes.

This encephalopathy can occur with or without associated hypoglycemia.

Patients with fatty acid oxidation do fine on a regular fat intake so long

as they are anabolic; their acylcarnitine profiles may or may not be normal.

And they are asymptomatic. However, when they fasting and are catabolic, the

flux through fatty acid oxidation overwhelms the system and their

biochemistry shows the accumulation of fatty acid intermediates. And that is

when they

become symptomatic (brain runs runs low on energy substrate - this causes

lethargy progressing to confusion and coma). Malisa may always show evidence

of fatty acid dysfunction but it is not clinically significant (some

mitochondrial disease patients actually show paradoxical reactions like

post-prandial

ketosis, again reflecting mitochondrial ketogenesis dysfunction). However,

if calories are low and she really needs to depend on fat oxidation as an

energy-producing mechanism, that's when this impairment can cause symptoms. "

Hope this is helpful.

Malisa

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* I understand that the acetyl variant of carnitine is the only type

that can

cross the blood-brain barrier, but I don't understand why that matters here,

because the brain uses ONLY glucose and doesn't do FAO.

Steve, your comment that the brain doesn't do FAO is intriguing. I haven't

heard this before, so I'm pondering the implications. I know that FAO

enzymes such as CPT are found in the brain. I have also heard Dr. Vladutiu

and others talk about the potential effects, for example, of a CPT

deficiency in brain tissue and that such a deficiency could cause symptoms.

Though I believe in some cases of FAOs where there is serious brain

pathology, it is attributed to a secondary lack of glucose due to impaired

gluconeogenesis in liver. Will try to do some searching of my own on the

subject when I can. Meanwhile, could point me to your sources? Tks. Barbara

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Thanks for sharing this, Malissa. Much appreciated. Most of this fits with

the literature I have seen, except the part about FAO patients doing fine on

regular fat intake in the anabolic state. I do not and I know quite a few

others who do not. Eating much fat always triggers bad symptoms for me.

Maybe he is referring to patients with secondary FAO defects? Primary FAOs

are usually instructed to limit fat intake regardless for several reasons.

Some primary FAOs are not asymptomatic in the anabolic state, and I

certainly am not----though that would be great, if true! I wish!!

I wonder what " other substrate for energy purposes " he is referring to? ATP?

Nucleotides? What energy sources does the brain absolutely need besides

glucose? This is what I wonder. The reason I ask is that my SLEs usually

occur without any measurable lack of glucose (even though I have documented

hypoglycemia at 30 during GTTs), so the question is why the brain brown-outs

if glucose appears to be adequate? I haven't dug deep in the lit to try to

sort this out. We thought the overnight tube feedings had " cured " the

SLEs---none at all in 2 years---but then it suddenly resurfaced big-time

with a stone-blocked kidney. We also know that glucose IV does not prevent

SLEs for me during fasting. We learned that the hard way. Well, these

questions tend to stick in my brain like a burr. Even theories can be

comforting, but at present I have no reasonable biochemical theory...

Anyway, thanks again. It's great to get this insider info. :-)

Hope your latest PICC infection and the second clot have safely resolved?

Are you okay?

Barbara

_____

From: [mailto: ] On Behalf

Of Malilibear@...

Sent: Sunday, May 01, 2005 8:32 PM

To:

Subject: Re: acetyl-L-carnitine

In a message dated 5/1/2005 7:42:59 PM Eastern Standard Time,

wheatchild@... writes:

Though I believe in some cases of FAOs where there is serious brain

pathology, it is attributed to a secondary lack of glucose due to impaired

gluconeogenesis in liver.

Hi Barbara,

I don't know much about FAOs but was recently found to have lab

abnormalities in my fatty acid oxidation labs ONLY when fasting. When I get

enough

calories in my TPN, my labs look normal. My mito doctor said the following

which

may answer your question to some degree--

" Since fatty acid oxidation is often dysfunctional secondary to the

mitochondrial disease, this creates a situation where she hasn't enough

glucose to

support CNS function and also indequate other substrate for energy

purposes.

This encephalopathy can occur with or without associated hypoglycemia.

Patients with fatty acid oxidation do fine on a regular fat intake so long

as they are anabolic; their acylcarnitine profiles may or may not be

normal.

And they are asymptomatic. However, when they fasting and are catabolic,

the

flux through fatty acid oxidation overwhelms the system and their

biochemistry shows the accumulation of fatty acid intermediates. And that

is when they

become symptomatic (brain runs runs low on energy substrate - this causes

lethargy progressing to confusion and coma). Malisa may always show

evidence

of fatty acid dysfunction but it is not clinically significant (some

mitochondrial disease patients actually show paradoxical reactions like

post-prandial

ketosis, again reflecting mitochondrial ketogenesis dysfunction). However,

if calories are low and she really needs to depend on fat oxidation as an

energy-producing mechanism, that's when this impairment can cause

symptoms. "

Hope this is helpful.

Malisa

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Thanks for the detailed response, I will be looking at trying it soon.

Take care,

RH

> Hi RH

>

> I've been thinking of responding to this question of yours, for

sometime,

> but I thought my personal response probably wouldn't be too

helpful. Also

> every time I re-read my incredibly useful textbook, my head spins

with the

> knowledge I've acquired and my humility at the knowledge I haven't

acquired.

> Nonetheless, here's my contribution:

>

> For me, I think acetyl-L-carnitine helps, and it is considerably

better than

> plain old L-carnitine. I should point out that I believe MY mito is

mainly

> FAO only (as evidenced by AMONG OTHER THINGS high triglycerides but

normal

> LDL and oddly low HDL). I also have extreme exertional fatigue so I

probably

> have other OXPHOS defects, but I know I have the FAO defects. I say

this

> because, as I'm sure you know, carnitine is absolutely necessary for

> transporting long and most medium chain fatty acids across the

outer and

> inner mitochondrial membranes (both ways: fatty acids in,

byproducts out). I

> understand that the acetyl variant of carnitine is the only type

that can

> cross the blood-brain barrier, but I don't understand why that

matters here,

> because the brain uses ONLY glucose and doesn't do FAO.

>

> I've experimented a lot with supplements. It's really difficult to

tell what

> helps, in most cases, because I have a (seemingly random) very wide

range of

> good days and bad days, as well as good months and bad months.

There's too

> many variables, including when and what I eat, when and how much I

sleep, my

> exercise (duration, timing), the season of the year, etc. And I

just can't

> " afford " the time to try each permutation of supplements for

several months.

>

> I have been taking these five per day for a good while now, and I

believe

> I've finally tuned it in somewhat, for best effect:

> one high-strength multivitamin

> one 325 mg. aspirin

> twice daily CoQ10, 480 mg. per day total

> twice daily acetyl-L-carnitine, 2000 mg. per day total

> twice daily Pancreatin, 3000 " equivalent " mg. per day total

>

> At least once I did a rather long-term trial, substituting plain

carnintine

> for the acetyl type, and then back again. Of all my symptoms, the

ONLY help

> that I can attribute to the acetyl type is the " generalized

sensations " . By

> this I mean that especially exertional fatigue and peripheral

neuropathy

> were NOT affected. I did have considerably lessened SENSATIONS of

feeling

> dizzy, clumsy, groggy, etc. Also, on plain old carnitine, by the

time I felt

> an exertional crash coming on it would be too late, and I would be

very

> likely to suddenly fall down, and a couple of times, actually pass

out. On

> acetyl carnitine, I would sense this crash earlier and have a

chance to sit

> down and let it pass. Sometimes now I can even STAND and let it

pass. It

> seems different now, like my brain is a little better but my

muscles and

> overal metabolism are still in trouble.

>

> BTW the pancreatin is on the advice and success of several people

with forms

> of " runaway " lipomas, like me. Pancreatin is a brew of enzymes that

> primarily assist the pancreas but also affect the liver and other

digestive

> organs. I have fatty liver (hepatic steatosis) diagnosed by

ultrasound.

> This, the lipomas, and some other evidence suggests a " gumming up "

of my

> entire body's fatty acid storage and release mechanism (in adipose

tissue,

> and the liver). I believe this is secondary to FAO defects. Sort of

like

> what you do if you're in a car and speeding up because your foot is

pressing

> the accelerator when you think it's the brake. At first, you

naturally press

> HARDER on the " brake " , not realizing that it is causing you to

speed up even

> more. I've also heard the analogy of " pushing on a string " i.e.

it's not

> going to work if something further down the way isn't taking up the

slack.

> Instead it just " backs up " , as floppy string.

>

> I've looked all over, and the best price (counting shipping) I've

found is

>

http://www.swansonvitamins.com/webapp/wcs/stores/servlet/ProductDispla

y?storeId=10001&langId=-1&catalogId=10051&productId=16050

> their product code SW1000. This item is also on their " second

bottle for

> $.01 " deal. That would be $20 total, for 200 500 mg. caps. Caveat:

when I

> ordered a while back, their actual storefront wasn't honoring this

deal

> properly, but an email to customer service brought immediate

correction.

>

> Sorry, a bit muddled, hope the above helps some.

> Steve D.

>

> > From: " ohgminion "

> > Date: Sat Apr 16, 2005 9:03 am

> > Subject: Re: statins

> > I got seizures on a starting dose of Carnitor (I'm thinking 1

tsp. of

> > the liquid each day, not sure what that would add up to in mg of

> > carnitine). Much less than 990 mg?

>

> > I'm wondering, is anyone on acetyl-L-carnitine? I haven't tried

it,

> > but I'm thinking it might work better for me than carnitine.

>

> > Thanks,

> > RH

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In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

wheatchild@... writes:

What energy sources does the brain absolutely need besides

glucose? This is what I wonder. The reason I ask is that my SLEs usually

occur without any measurable lack of glucose

Hi Barbara,

Hmmm.....good question! Maybe your brain just lacks the ability to convert

that glucose into useable energy??

Do you just have FAO's or do you also have mito? The way it's been described

to me in the past is that FAO's don't typically involve as many organ

systems and symptoms as mito patients have. (please correct me if I'm wrong on

this!) So, if you have an additional mitochondrial disorder or more than one

FAO,

maybe this is why you still present with symptoms even after having

glucose?? I'm just guessing here though. I am on TPN with glucose 22 hrs a day

right

now and I am certainly not symptom free while on it, but that's b/c of the

mito, not b/c of the FAO. As soon as I come off of the TPN, within several

hours, I get very " out of it " and lethargic, sometimes my blood sugar is low but

sometimes it's not. It's during these times that I start running into fatty

acid dysfunction and my fatty acid labs look abnormal.

It's definitely possible that he's referring to secondary FAO's when he

speaks of patients being okay on fats. I think everyone is different with how

they handle things...some people probably do okay while others don't.

Originally, he didn't want me to have lipids in my TPN when acutely ill and

that's why

they were testing the FAO labs with lipids when I was really sick. My labs

actually looked BETTER at that time with lipids than without. This was purely

b/c I was getting enough calories for my body to utilize the glucose correctly

and not convert to fatty acid oxidation. As soon as the glucose calories are

decreased, I don't do well with the lipids.

I doubt I answered your questions b/c all of this confuses me! But, if you

find more answers from your doctors, please share. I'd really like to learn

more about all of this.

Also, thanks for asking how I am. I got out of the hospital on Friday...good

news is that I didn't have a clot near my heart afterall. There is some

narrowing from the old clot, but no new clots which is great news! Not so great

news is that the new PICC that was placed on Thursday just started hurting

again today, so I may need to get it removed at some point this week. I don't

have anymore sites for PICC's and they found out that I don't have any sites

for central lines on the left side of my chest anymore. So, right now the right

side is the only place that they can put a new line. Hopefully this PICC

will get me through the week without a hospital stay!

Thanks for thinking of me.

Malisa

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Malissa, Tks a lot for the response. I agree that all of this is very

confusing, especially when I have no " experts " involved in my day to day

care, though we have a couple on call. My doctors and I all bumble along

together. That's the reason I try to work on these puzzles myself, to give

them some clues about the whys and what might help/hurt. If I can even offer

them a reasonable theory, they pay attention. As for my combo diagnosis, I

have a primary FAO aka CPT deficiency, but also have a primary global mito

defect that causes secondary deficiencies in all mitochondrial metabolic

cycles: beta oxidation (FAO), Krebs and OXPHOS. Every enzyme they have

measured in those three cycles is deficient, so the assumption is that all

are deficient in varying degrees. Non-mito enzymes are normal. Yes, I think

you're right, the combo impairments in so many metabolic pathways makes my

brain more vulnerable, which no doubt is why my speech/cognition goes

haywire without round-the-clock nutrition. I eat my six foods daytime and do

J-tube feedings at night.

As for your PICC and central lines, sounds like you are in a very difficult

place, between infections, clots and trying to preserve decent sites. You're

pretty gutsy, I'd say! (Whoops, pun not intended.)

B

_____

From: [mailto: ] On Behalf

Of Malilibear@...

Sent: Monday, May 02, 2005 10:23 PM

To:

Subject: Re: acetyl-L-carnitine

In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

wheatchild@... writes:

What energy sources does the brain absolutely need besides

glucose? This is what I wonder. The reason I ask is that my SLEs usually

occur without any measurable lack of glucose

Hi Barbara,

Hmmm.....good question! Maybe your brain just lacks the ability to convert

that glucose into useable energy??

Do you just have FAO's or do you also have mito? The way it's been

described

to me in the past is that FAO's don't typically involve as many organ

systems and symptoms as mito patients have. (please correct me if I'm wrong

on

this!) So, if you have an additional mitochondrial disorder or more than one

FAO,

maybe this is why you still present with symptoms even after having

glucose?? I'm just guessing here though. I am on TPN with glucose 22 hrs a

day right

now and I am certainly not symptom free while on it, but that's b/c of the

mito, not b/c of the FAO. As soon as I come off of the TPN, within several

hours, I get very " out of it " and lethargic, sometimes my blood sugar is low

but

sometimes it's not. It's during these times that I start running into fatty

acid dysfunction and my fatty acid labs look abnormal.

It's definitely possible that he's referring to secondary FAO's when he

speaks of patients being okay on fats. I think everyone is different with

how

they handle things...some people probably do okay while others don't.

Originally, he didn't want me to have lipids in my TPN when acutely ill and

that's why

they were testing the FAO labs with lipids when I was really sick. My labs

actually looked BETTER at that time with lipids than without. This was

purely

b/c I was getting enough calories for my body to utilize the glucose

correctly

and not convert to fatty acid oxidation. As soon as the glucose calories

are

decreased, I don't do well with the lipids.

I doubt I answered your questions b/c all of this confuses me! But, if you

find more answers from your doctors, please share. I'd really like to learn

more about all of this.

Also, thanks for asking how I am. I got out of the hospital on

Friday...good

news is that I didn't have a clot near my heart afterall. There is some

narrowing from the old clot, but no new clots which is great news! Not so

great

news is that the new PICC that was placed on Thursday just started hurting

again today, so I may need to get it removed at some point this week. I

don't

have anymore sites for PICC's and they found out that I don't have any

sites

for central lines on the left side of my chest anymore. So, right now the

right

side is the only place that they can put a new line. Hopefully this PICC

will get me through the week without a hospital stay!

Thanks for thinking of me.

Malisa

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This may be a dumb question, but would they consider leaving the PICC

out for a while? Is it just for medications, or for TPN too (hope

that isn't a stupid or personal question)? I guess it depends if

they could inject your anti-fungal meds but I suppose they can't

inject TPN (I remember that song " Holy, Holy, Holy " from church) :)

It is too bad that humans aren't like bunnies and other critters -

they have a nice amount of skin on the back of their neck and

shoulder blades, so that area is out of the way and easy to stick or

leave a line in (I do rabbit fostering :) At one point, we had to

pack and clean a 1 " deep jaw abscess twice per day on one of our

bunnies, yucky!

Here is an interesting site on different types of " semi-permanent

sticks " :

http://www3.nbnet.nb.ca/normap/ivaccess.htm

Does anyone have a link to " general info " on TPN - does anyone ever

go off of it (like do they do trials of trying to eat again), or is

it usually for the long haul? Why would they choose a J-G tube over

TPN or vice versa? Thanks in advance and sorry if this is off-

subject, it seems many people on this list probably know all too much

about TPN and J-G tubes. I had severe GI symptoms at one point, for

weeks I couldn't eat a gram of fat without (TMI) bright green

vomiting and diarrhea, but they thought it was a gall bladder attack

(yet everything was fine on the abdominal u/s and lab values). Maybe

it was a mito attack?

Take care,

RH

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@n... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs

usually

> occur without any measurable lack of glucose

>

> Hi Barbara,

> Hmmm.....good question! Maybe your brain just lacks the ability to

convert

> that glucose into useable energy??

> Do you just have FAO's or do you also have mito? The way it's been

described

> to me in the past is that FAO's don't typically involve as many

organ

> systems and symptoms as mito patients have. (please correct me if

I'm wrong on

> this!) So, if you have an additional mitochondrial disorder or more

than one FAO,

> maybe this is why you still present with symptoms even after

having

> glucose?? I'm just guessing here though. I am on TPN with glucose

22 hrs a day right

> now and I am certainly not symptom free while on it, but that's b/c

of the

> mito, not b/c of the FAO. As soon as I come off of the TPN, within

several

> hours, I get very " out of it " and lethargic, sometimes my blood

sugar is low but

> sometimes it's not. It's during these times that I start running

into fatty

> acid dysfunction and my fatty acid labs look abnormal.

>

> It's definitely possible that he's referring to secondary FAO's

when he

> speaks of patients being okay on fats. I think everyone is

different with how

> they handle things...some people probably do okay while others

don't.

> Originally, he didn't want me to have lipids in my TPN when acutely

ill and that's why

> they were testing the FAO labs with lipids when I was really sick.

My labs

> actually looked BETTER at that time with lipids than without. This

was purely

> b/c I was getting enough calories for my body to utilize the

glucose correctly

> and not convert to fatty acid oxidation. As soon as the glucose

calories are

> decreased, I don't do well with the lipids.

>

> I doubt I answered your questions b/c all of this confuses me! But,

if you

> find more answers from your doctors, please share. I'd really like

to learn

> more about all of this.

>

> Also, thanks for asking how I am. I got out of the hospital on

Friday...good

> news is that I didn't have a clot near my heart afterall. There is

some

> narrowing from the old clot, but no new clots which is great news!

Not so great

> news is that the new PICC that was placed on Thursday just started

hurting

> again today, so I may need to get it removed at some point this

week. I don't

> have anymore sites for PICC's and they found out that I don't have

any sites

> for central lines on the left side of my chest anymore. So, right

now the right

> side is the only place that they can put a new line. Hopefully this

PICC

> will get me through the week without a hospital stay!

>

> Thanks for thinking of me.

> Malisa

>

>

>

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I know one thing the brain doesn't need - lactate! My MR SPECT

showed lactate buildup in different areas of the brain, and

indications that lactate was spreading from one hemisphere to the

other.

Certainly there are a lot of neurotransmitters in the brain

(dopamine, serotonin, norepinephrine, glutamate, etc.), so although

they aren't " needed " as fuel, there are a lot of messengers that are

needed to process and convey nerve messages.

This site may be of interest too:

http://www.familyresource.com/health/23/850/

I was told that it is important to eat enough fat during pregnancy,

especially in the latter half as the baby's brain needs fat to grow.

So somehow the amount of fat the mother eats either ends up through

the placenta through the baby's blood-brain barrier to the baby's

brain, or the exposure to a higher level of fatty acids in the blood

may cue other processes that result in " brain building " for the baby.

FAO issues are very interesting to me, as I have one defect that

shows up, but hasn't been addressed by my doctor, and I do really

well on a high fat, high protein diet. So many questions for Dr. K!

Take care,

RH

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@n... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs

usually

> occur without any measurable lack of glucose

>

> Hi Barbara,

> Hmmm.....good question! Maybe your brain just lacks the ability to

convert

> that glucose into useable energy??

> Do you just have FAO's or do you also have mito? The way it's been

described

> to me in the past is that FAO's don't typically involve as many

organ

> systems and symptoms as mito patients have. (please correct me if

I'm wrong on

> this!) So, if you have an additional mitochondrial disorder or more

than one FAO,

> maybe this is why you still present with symptoms even after

having

> glucose?? I'm just guessing here though. I am on TPN with glucose

22 hrs a day right

> now and I am certainly not symptom free while on it, but that's b/c

of the

> mito, not b/c of the FAO. As soon as I come off of the TPN, within

several

> hours, I get very " out of it " and lethargic, sometimes my blood

sugar is low but

> sometimes it's not. It's during these times that I start running

into fatty

> acid dysfunction and my fatty acid labs look abnormal.

>

> It's definitely possible that he's referring to secondary FAO's

when he

> speaks of patients being okay on fats. I think everyone is

different with how

> they handle things...some people probably do okay while others

don't.

> Originally, he didn't want me to have lipids in my TPN when acutely

ill and that's why

> they were testing the FAO labs with lipids when I was really sick.

My labs

> actually looked BETTER at that time with lipids than without. This

was purely

> b/c I was getting enough calories for my body to utilize the

glucose correctly

> and not convert to fatty acid oxidation. As soon as the glucose

calories are

> decreased, I don't do well with the lipids.

>

> I doubt I answered your questions b/c all of this confuses me! But,

if you

> find more answers from your doctors, please share. I'd really like

to learn

> more about all of this.

>

> Also, thanks for asking how I am. I got out of the hospital on

Friday...good

> news is that I didn't have a clot near my heart afterall. There is

some

> narrowing from the old clot, but no new clots which is great news!

Not so great

> news is that the new PICC that was placed on Thursday just started

hurting

> again today, so I may need to get it removed at some point this

week. I don't

> have anymore sites for PICC's and they found out that I don't have

any sites

> for central lines on the left side of my chest anymore. So, right

now the right

> side is the only place that they can put a new line. Hopefully this

PICC

> will get me through the week without a hospital stay!

>

> Thanks for thinking of me.

> Malisa

>

>

>

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Guest guest

Good point. The brain needs many substances to function normally. SLEs may

very well represent different metabolic brain imbalances in different

patients. I've never had MR SPECT, only MRI and never during an SLE. I don't

know how sensitive MRI is in finding excess lactate.

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Tuesday, May 03, 2005 4:28 PM

To:

Subject: Re: acetyl-L-carnitine

I know one thing the brain doesn't need - lactate! My MR SPECT

showed lactate buildup in different areas of the brain, and

indications that lactate was spreading from one hemisphere to the

other.

Certainly there are a lot of neurotransmitters in the brain

(dopamine, serotonin, norepinephrine, glutamate, etc.), so although

they aren't " needed " as fuel, there are a lot of messengers that are

needed to process and convey nerve messages.

This site may be of interest too:

http://www.familyresource.com/health/23/850/

I was told that it is important to eat enough fat during pregnancy,

especially in the latter half as the baby's brain needs fat to grow.

So somehow the amount of fat the mother eats either ends up through

the placenta through the baby's blood-brain barrier to the baby's

brain, or the exposure to a higher level of fatty acids in the blood

may cue other processes that result in " brain building " for the baby.

FAO issues are very interesting to me, as I have one defect that

shows up, but hasn't been addressed by my doctor, and I do really

well on a high fat, high protein diet. So many questions for Dr. K!

Take care,

RH

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@n... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs

usually

> occur without any measurable lack of glucose

>

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MR SPECT is neat - they program it individually for the chemical they

are looking for, so they know that when they tune it for lactate, it

only detects lactate. The MR SPECT was one of the few tests that was

positive (in a bad way LOL) for me. I don't usually have high blood

lactate levels, so it was a bit of a surprise that the test showed

enough lactate to say " look for metabolic cause for elevated lactate

levels " .

FYI, I went to C-P in NYC to have the MR SPECT done (really only

large hospitals or university hospitals have the right equipment),

and it doesn't require a contrast dye or anything, so no needles.

From what I recall, it was an open MRI, so very nice and airy. My

insurance (Aetna at the time I think) covered it no problem. The

results made me determined to get a muscle biopsy.

Take care,

RH

> > In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> > wheatchild@n... writes:

> >

> > What energy sources does the brain absolutely need besides

> > glucose? This is what I wonder. The reason I ask is that my SLEs

> usually

> > occur without any measurable lack of glucose

> >

>

>

>

>

>

>

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Guest guest

Hi Malisa

I'm confused when you say " Do you just have FAO's or do you also have

mito? " , implying (to my reading) that FAO is not a form of mito.

I thought that FAO, i.e. fatty acid oxidation, took place IN the

mitochondria. I do understand that many mito problems are in the citric acid

(aka Krebs aka TCA ) cycle and/or electron transport chain that together

underlies ALL energy production (i.e. glucose AND fatty acids). But I

thought that FAO defects were just one of many variants of mito dysfunction.

I also thought that some mito dysfunction is due to impaired transport

functionality at either the outer or inner mito membrane, and not

technically IN the mitochondria at all. But these are all mito related,

whether it's membrane transport, beta-oxidation (fattty acids only), or

common-pathway energy production. IMHO not enough is known about them all

and how they relate to each other, to be leaving some types of mito errors

out of what's called " mito " . Even when the exact defect isn't known, these

mito diseases almost always share certain symptoms, especially energy

deficit.

Even secondary (as opposed to primary) FAO dysfunction is still in the

mitochondria. I suppose one could argue that something very systemic, in

digestion and/or enzyme errors, that " merely " LEADS to too much or too

little FAO should not be considered mito. But again, if we're not SURE

whether an FAO problem is primary or secondary, I personally don't think the

term " mito " should be ruled out. After all, even the various mitochondrial

myopathies (including encephalomyopathies) described by the MDA are

categorized only by symptom cluster, not error location. Also, even

secondary FAO dysfunction will lead to energy deficit, irregardless of

cause. Maybe the problem I've having with terminology would be solved by

calling it FA (not FAO) dysfunction if it's secondary. Anyway, it's

certainly worthwhile to label the PRIMARY defect location (when it's known,

of course).

Forgive me, I don't mean to be splitting hairs, just trying to get this

straight in my mind. Very sorry if I have this all wrong. :-)

Steve D.

Date: Mon, 2 May 2005 23:23:15 EDT

From: Malilibear@...

Subject: Re: acetyl-L-carnitine

In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

wheatchild@... writes:

What energy sources does the brain absolutely need besides

glucose? This is what I wonder. The reason I ask is that my SLEs usually

occur without any measurable lack of glucose

Hi Barbara,

Hmmm.....good question! Maybe your brain just lacks the ability to convert

that glucose into useable energy??

Do you just have FAO's or do you also have mito? The way it's been

described

to me in the past is that FAO's don't typically involve as many organ

systems and symptoms as mito patients have. (please correct me if I'm wrong

on

this!) So, if you have an additional mitochondrial disorder or more than one

FAO,

maybe this is why you still present with symptoms even after having

glucose?? I'm just guessing here though. I am on TPN with glucose 22 hrs a

day right

now and I am certainly not symptom free while on it, but that's b/c of the

mito, not b/c of the FAO. As soon as I come off of the TPN, within several

hours, I get very " out of it " and lethargic, sometimes my blood sugar is low

but

sometimes it's not. It's during these times that I start running into fatty

acid dysfunction and my fatty acid labs look abnormal.

It's definitely possible that he's referring to secondary FAO's when he

speaks of patients being okay on fats. I think everyone is different with

how

they handle things...some people probably do okay while others don't.

Originally, he didn't want me to have lipids in my TPN when acutely ill and

that's why

they were testing the FAO labs with lipids when I was really sick. My labs

actually looked BETTER at that time with lipids than without. This was

purely

b/c I was getting enough calories for my body to utilize the glucose

correctly

and not convert to fatty acid oxidation. As soon as the glucose calories

are

decreased, I don't do well with the lipids.

I doubt I answered your questions b/c all of this confuses me! But, if you

find more answers from your doctors, please share. I'd really like to learn

more about all of this.

Also, thanks for asking how I am. I got out of the hospital on

Friday...good

news is that I didn't have a clot near my heart afterall. There is some

narrowing from the old clot, but no new clots which is great news! Not so

great

news is that the new PICC that was placed on Thursday just started hurting

again today, so I may need to get it removed at some point this week. I

don't

have anymore sites for PICC's and they found out that I don't have any

sites

for central lines on the left side of my chest anymore. So, right now the

right

side is the only place that they can put a new line. Hopefully this PICC

will get me through the week without a hospital stay!

Thanks for thinking of me.

Malisa

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Steve

I understand it the way you do. Fatty Acids enter the ATP production

at complex II. I have a complex I defect (0%), which also caused a

decrease in II and III.

I know that when I had my fresh biopsy and mito was confirmed, that

when doing the genetic portion of the testing, Dr. Shoffer checked

transfer genes and other things outside the mitochondria that are

responsible for making the mitochondria function. He only checked for

complex I and these genes and the defect was not found, although our

family history says that it is inherited maternally which would make

one think it is a mtDNA defect. They are still learning.

laurie

> Hi Malisa

>

> I'm confused when you say " Do you just have FAO's or do you also have

> mito? " , implying (to my reading) that FAO is not a form of mito.

>

> I thought that FAO, i.e. fatty acid oxidation, took place IN the

> mitochondria. I do understand that many mito problems are in the citric

> acid

> (aka Krebs aka TCA ) cycle and/or electron transport chain that together

> underlies ALL energy production (i.e. glucose AND fatty acids). But I

> thought that FAO defects were just one of many variants of mito

> dysfunction.

> I also thought that some mito dysfunction is due to impaired transport

> functionality at either the outer or inner mito membrane, and not

> technically IN the mitochondria at all. But these are all mito related,

> whether it's membrane transport, beta-oxidation (fattty acids only), or

> common-pathway energy production. IMHO not enough is known about them all

> and how they relate to each other, to be leaving some types of mito errors

> out of what's called " mito " . Even when the exact defect isn't known, these

> mito diseases almost always share certain symptoms, especially energy

> deficit.

>

> Even secondary (as opposed to primary) FAO dysfunction is still in the

> mitochondria. I suppose one could argue that something very systemic, in

> digestion and/or enzyme errors, that " merely " LEADS to too much or too

> little FAO should not be considered mito. But again, if we're not SURE

> whether an FAO problem is primary or secondary, I personally don't think

> the

> term " mito " should be ruled out. After all, even the various mitochondrial

> myopathies (including encephalomyopathies) described by the MDA are

> categorized only by symptom cluster, not error location. Also, even

> secondary FAO dysfunction will lead to energy deficit, irregardless of

> cause. Maybe the problem I've having with terminology would be solved by

> calling it FA (not FAO) dysfunction if it's secondary. Anyway, it's

> certainly worthwhile to label the PRIMARY defect location (when it's known,

> of course).

>

> Forgive me, I don't mean to be splitting hairs, just trying to get this

> straight in my mind. Very sorry if I have this all wrong. :-)

>

> Steve D.

>

> Date: Mon, 2 May 2005 23:23:15 EDT

> From: Malilibear@...

> Subject: Re: acetyl-L-carnitine

>

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs usually

> occur without any measurable lack of glucose

>

> Hi Barbara,

> Hmmm.....good question! Maybe your brain just lacks the ability to convert

> that glucose into useable energy??

> Do you just have FAO's or do you also have mito? The way it's been

> described

> to me in the past is that FAO's don't typically involve as many organ

> systems and symptoms as mito patients have. (please correct me if I'm wrong

> on

> this!) So, if you have an additional mitochondrial disorder or more than

> one

> FAO,

> maybe this is why you still present with symptoms even after having

> glucose?? I'm just guessing here though. I am on TPN with glucose 22 hrs a

> day right

> now and I am certainly not symptom free while on it, but that's b/c of the

> mito, not b/c of the FAO. As soon as I come off of the TPN, within several

> hours, I get very " out of it " and lethargic, sometimes my blood sugar is

> low

> but

> sometimes it's not. It's during these times that I start running into fatty

> acid dysfunction and my fatty acid labs look abnormal.

>

> It's definitely possible that he's referring to secondary FAO's when he

> speaks of patients being okay on fats. I think everyone is different with

> how

> they handle things...some people probably do okay while others don't.

> Originally, he didn't want me to have lipids in my TPN when acutely ill and

> that's why

> they were testing the FAO labs with lipids when I was really sick. My labs

> actually looked BETTER at that time with lipids than without. This was

> purely

> b/c I was getting enough calories for my body to utilize the glucose

> correctly

> and not convert to fatty acid oxidation. As soon as the glucose calories

> are

> decreased, I don't do well with the lipids.

>

> I doubt I answered your questions b/c all of this confuses me! But, if you

> find more answers from your doctors, please share. I'd really like to learn

> more about all of this.

>

> Also, thanks for asking how I am. I got out of the hospital on

> Friday...good

> news is that I didn't have a clot near my heart afterall. There is some

> narrowing from the old clot, but no new clots which is great news! Not so

> great

> news is that the new PICC that was placed on Thursday just started hurting

> again today, so I may need to get it removed at some point this week. I

> don't

> have anymore sites for PICC's and they found out that I don't have any

> sites

> for central lines on the left side of my chest anymore. So, right now the

> right

> side is the only place that they can put a new line. Hopefully this PICC

> will get me through the week without a hospital stay!

>

> Thanks for thinking of me.

> Malisa

>

>

>

> 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.

>

>

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Share on other sites

Guest guest

Steve, I'm sure Malissa will answer, but here's what I understand. Some

experts use a narrower definition of " mitochondrial disorders " as referring

ONLY to defects in the mitochondrial respiratory chain complexes and/or a

defect in mtDNA. For example, Dr. Haas at UCSD (my son's doctor) uses this

narrower definition. Under this system, any defect in FAO is referred to as

a defect in energy metabolism, even though the beta oxidation cycle and the

Krebs cycle do take place in the mitochondrion. Articles written by Sharon

Hesterlee PhD. for MDA publications also use this narrower definition. UMDF

includes a broader group of disorders under their mito umbrella. It's a

matter of terminology and science evolving to the point where everyone can

agree on exactly which terms apply where. I suspect it will be many years

before mito nomenclature becomes standardized, given the glacial pace of the

scientific community---where personal opinions tend to become entrenched and

vigorously defended.

Your distinction between FA and FAO is interesting as applied to secondary

defects. Secondary FAOs as presented in the lit still involve actual

deficiencies in FAO enzymes-assayed and confirmed--which would inevitably

impair FAO. It's just that the causative mutation resides in a gene for

another metabolic cycle. But actual FAO enzyme deficiencies exist

secondarily, which then impair FAO. In fact, when an enzyme assay initially

detects a deficiency in any enzyme in any metabolic cycle, the primaries

look exactly like the secondaries-- except perhaps in the amount of

reduction of activity, though that may be identical too. To sort out

primary from secondary deficiencies, further testing is necessary, either

biochemical or molecular genetic, etc. Sometimes one can only draw

inferences and project likelihoods if the underlying mutations have not been

identified.

Hope this helps.

B

_____

From: [mailto: ] On Behalf

Of Steve

Sent: Wednesday, May 04, 2005 2:34 AM

To:

Subject: Re: acetyl-L-carnitine

Hi Malisa

I'm confused when you say " Do you just have FAO's or do you also have

mito? " , implying (to my reading) that FAO is not a form of mito.

I thought that FAO, i.e. fatty acid oxidation, took place IN the

mitochondria. I do understand that many mito problems are in the citric acid

(aka Krebs aka TCA ) cycle and/or electron transport chain that together

underlies ALL energy production (i.e. glucose AND fatty acids). But I

thought that FAO defects were just one of many variants of mito dysfunction.

I also thought that some mito dysfunction is due to impaired transport

functionality at either the outer or inner mito membrane, and not

technically IN the mitochondria at all. But these are all mito related,

whether it's membrane transport, beta-oxidation (fattty acids only), or

common-pathway energy production. IMHO not enough is known about them all

and how they relate to each other, to be leaving some types of mito errors

out of what's called " mito " . Even when the exact defect isn't known, these

mito diseases almost always share certain symptoms, especially energy

deficit.

Even secondary (as opposed to primary) FAO dysfunction is still in the

mitochondria. I suppose one could argue that something very systemic, in

digestion and/or enzyme errors, that " merely " LEADS to too much or too

little FAO should not be considered mito. But again, if we're not SURE

whether an FAO problem is primary or secondary, I personally don't think the

term " mito " should be ruled out. After all, even the various mitochondrial

myopathies (including encephalomyopathies) described by the MDA are

categorized only by symptom cluster, not error location. Also, even

secondary FAO dysfunction will lead to energy deficit, irregardless of

cause. Maybe the problem I've having with terminology would be solved by

calling it FA (not FAO) dysfunction if it's secondary. Anyway, it's

certainly worthwhile to label the PRIMARY defect location (when it's known,

of course).

Forgive me, I don't mean to be splitting hairs, just trying to get this

straight in my mind. Very sorry if I have this all wrong. :-)

Steve D.

Date: Mon, 2 May 2005 23:23:15 EDT

From: Malilibear@...

Subject: Re: acetyl-L-carnitine

In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

wheatchild@... writes:

What energy sources does the brain absolutely need besides

glucose? This is what I wonder. The reason I ask is that my SLEs usually

occur without any measurable lack of glucose

Hi Barbara,

Hmmm.....good question! Maybe your brain just lacks the ability to convert

that glucose into useable energy??

Do you just have FAO's or do you also have mito? The way it's been

described

to me in the past is that FAO's don't typically involve as many organ

systems and symptoms as mito patients have. (please correct me if I'm wrong

on

this!) So, if you have an additional mitochondrial disorder or more than one

FAO,

maybe this is why you still present with symptoms even after having

glucose?? I'm just guessing here though. I am on TPN with glucose 22 hrs a

day right

now and I am certainly not symptom free while on it, but that's b/c of the

mito, not b/c of the FAO. As soon as I come off of the TPN, within several

hours, I get very " out of it " and lethargic, sometimes my blood sugar is low

but

sometimes it's not. It's during these times that I start running into fatty

acid dysfunction and my fatty acid labs look abnormal.

It's definitely possible that he's referring to secondary FAO's when he

speaks of patients being okay on fats. I think everyone is different with

how

they handle things...some people probably do okay while others don't.

Originally, he didn't want me to have lipids in my TPN when acutely ill and

that's why

they were testing the FAO labs with lipids when I was really sick. My labs

actually looked BETTER at that time with lipids than without. This was

purely

b/c I was getting enough calories for my body to utilize the glucose

correctly

and not convert to fatty acid oxidation. As soon as the glucose calories

are

decreased, I don't do well with the lipids.

I doubt I answered your questions b/c all of this confuses me! But, if you

find more answers from your doctors, please share. I'd really like to learn

more about all of this.

Also, thanks for asking how I am. I got out of the hospital on

Friday...good

news is that I didn't have a clot near my heart afterall. There is some

narrowing from the old clot, but no new clots which is great news! Not so

great

news is that the new PICC that was placed on Thursday just started hurting

again today, so I may need to get it removed at some point this week. I

don't

have anymore sites for PICC's and they found out that I don't have any

sites

for central lines on the left side of my chest anymore. So, right now the

right

side is the only place that they can put a new line. Hopefully this PICC

will get me through the week without a hospital stay!

Thanks for thinking of me.

Malisa

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.

_____

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Share on other sites

Guest guest

Since I've had eight or nine normal brain MRI's over the past 10

years, and one abnormal MR SPECT, I'd have to say MRI's aren't likely

to find lactate in the brain (they are " too general " ). I was having

a " good day " when I got the MR SPECT, so I was surprised they found

anything abnormal.

Take care,

RH

> > In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> > wheatchild@n... writes:

> >

> > What energy sources does the brain absolutely need besides

> > glucose? This is what I wonder. The reason I ask is that my SLEs

> usually

> > occur without any measurable lack of glucose

> >

>

>

>

>

>

>

Link to comment
Share on other sites

Guest guest

The interesting part is that we all have different illnesses, and can

also learn a lot from people with illnesses that are even more

different (like MS and MD).

I believe that is why there is a " mito cocktail " - some people might

benefit from all of the components, but the list was presented to me

as " Try No. 1 (CoQ10 of course) first, then try No. 2, in addition or

instead of... " as opposed to " Try all of them and they should help

you " .

It is unclear at this point whether I have a FAO disorder in addition

to a respiratory chain (Complex I in my case) disorder, and the lab

results say that there may be some overlap - deficiencies in Complex

I may lead to FAO abnormalities, but I haven't had FAO enzyme testing

as far as I can tell. It would be nice if they could just " test

everything " , but each test is $$$ and they usually expect most of

them they do order to be normal...

Take care,

RH

> Steve, I'm sure Malissa will answer, but here's what I understand.

Some

> experts use a narrower definition of " mitochondrial disorders " as

referring

> ONLY to defects in the mitochondrial respiratory chain complexes

and/or a

> defect in mtDNA. For example, Dr. Haas at UCSD (my son's doctor)

uses this

> narrower definition. Under this system, any defect in FAO is

referred to as

> a defect in energy metabolism, even though the beta oxidation cycle

and the

> Krebs cycle do take place in the mitochondrion. Articles written

by Sharon

> Hesterlee PhD. for MDA publications also use this narrower

definition. UMDF

> includes a broader group of disorders under their mito umbrella.

It's a

> matter of terminology and science evolving to the point where

everyone can

> agree on exactly which terms apply where. I suspect it will be many

years

> before mito nomenclature becomes standardized, given the glacial

pace of the

> scientific community---where personal opinions tend to become

entrenched and

> vigorously defended.

>

>

>

> Your distinction between FA and FAO is interesting as applied to

secondary

> defects. Secondary FAOs as presented in the lit still involve actual

> deficiencies in FAO enzymes-assayed and confirmed--which would

inevitably

> impair FAO. It's just that the causative mutation resides in a

gene for

> another metabolic cycle. But actual FAO enzyme deficiencies exist

> secondarily, which then impair FAO. In fact, when an enzyme assay

initially

> detects a deficiency in any enzyme in any metabolic cycle, the

primaries

> look exactly like the secondaries-- except perhaps in the amount of

> reduction of activity, though that may be identical too. To sort

out

> primary from secondary deficiencies, further testing is necessary,

either

> biochemical or molecular genetic, etc. Sometimes one can only draw

> inferences and project likelihoods if the underlying mutations have

not been

> identified.

>

>

>

> Hope this helps.

>

> B

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of Steve

> Sent: Wednesday, May 04, 2005 2:34 AM

> To:

> Subject: Re: acetyl-L-carnitine

>

>

>

> Hi Malisa

>

> I'm confused when you say " Do you just have FAO's or do you also

have

> mito? " , implying (to my reading) that FAO is not a form of mito.

>

> I thought that FAO, i.e. fatty acid oxidation, took place IN the

> mitochondria. I do understand that many mito problems are in the

citric acid

> (aka Krebs aka TCA ) cycle and/or electron transport chain that

together

> underlies ALL energy production (i.e. glucose AND fatty acids). But

I

> thought that FAO defects were just one of many variants of mito

dysfunction.

> I also thought that some mito dysfunction is due to impaired

transport

> functionality at either the outer or inner mito membrane, and not

> technically IN the mitochondria at all. But these are all mito

related,

> whether it's membrane transport, beta-oxidation (fattty acids

only), or

> common-pathway energy production. IMHO not enough is known about

them all

> and how they relate to each other, to be leaving some types of mito

errors

> out of what's called " mito " . Even when the exact defect isn't

known, these

> mito diseases almost always share certain symptoms, especially

energy

> deficit.

>

> Even secondary (as opposed to primary) FAO dysfunction is still in

the

> mitochondria. I suppose one could argue that something very

systemic, in

> digestion and/or enzyme errors, that " merely " LEADS to too much or

too

> little FAO should not be considered mito. But again, if we're not

SURE

> whether an FAO problem is primary or secondary, I personally don't

think the

> term " mito " should be ruled out. After all, even the various

mitochondrial

> myopathies (including encephalomyopathies) described by the MDA are

> categorized only by symptom cluster, not error location. Also, even

> secondary FAO dysfunction will lead to energy deficit, irregardless

of

> cause. Maybe the problem I've having with terminology would be

solved by

> calling it FA (not FAO) dysfunction if it's secondary. Anyway, it's

> certainly worthwhile to label the PRIMARY defect location (when

it's known,

> of course).

>

> Forgive me, I don't mean to be splitting hairs, just trying to get

this

> straight in my mind. Very sorry if I have this all wrong. :-)

>

> Steve D.

>

> Date: Mon, 2 May 2005 23:23:15 EDT

> From: Malilibear@a...

> Subject: Re: acetyl-L-carnitine

>

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@n... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs

usually

> occur without any measurable lack of glucose

>

> Hi Barbara,

> Hmmm.....good question! Maybe your brain just lacks the ability to

convert

> that glucose into useable energy??

> Do you just have FAO's or do you also have mito? The way it's been

> described

> to me in the past is that FAO's don't typically involve as many

organ

> systems and symptoms as mito patients have. (please correct me if

I'm wrong

> on

> this!) So, if you have an additional mitochondrial disorder or more

than one

> FAO,

> maybe this is why you still present with symptoms even after having

> glucose?? I'm just guessing here though. I am on TPN with glucose

22 hrs a

> day right

> now and I am certainly not symptom free while on it, but that's b/c

of the

> mito, not b/c of the FAO. As soon as I come off of the TPN, within

several

> hours, I get very " out of it " and lethargic, sometimes my blood

sugar is low

> but

> sometimes it's not. It's during these times that I start running

into fatty

> acid dysfunction and my fatty acid labs look abnormal.

>

> It's definitely possible that he's referring to secondary FAO's

when he

> speaks of patients being okay on fats. I think everyone is

different with

> how

> they handle things...some people probably do okay while others

don't.

> Originally, he didn't want me to have lipids in my TPN when acutely

ill and

> that's why

> they were testing the FAO labs with lipids when I was really sick.

My labs

> actually looked BETTER at that time with lipids than without. This

was

> purely

> b/c I was getting enough calories for my body to utilize the glucose

> correctly

> and not convert to fatty acid oxidation. As soon as the glucose

calories

> are

> decreased, I don't do well with the lipids.

>

> I doubt I answered your questions b/c all of this confuses me! But,

if you

> find more answers from your doctors, please share. I'd really like

to learn

> more about all of this.

>

> Also, thanks for asking how I am. I got out of the hospital on

> Friday...good

> news is that I didn't have a clot near my heart afterall. There is

some

> narrowing from the old clot, but no new clots which is great news!

Not so

> great

> news is that the new PICC that was placed on Thursday just started

hurting

> again today, so I may need to get it removed at some point this

week. I

> don't

> have anymore sites for PICC's and they found out that I don't have

any

> sites

> for central lines on the left side of my chest anymore. So, right

now the

> right

> side is the only place that they can put a new line. Hopefully this

PICC

> will get me through the week without a hospital stay!

>

> Thanks for thinking of me.

> Malisa

>

>

> 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.

>

>

>

>

>

> _____

>

>

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Guest guest

Ah, interesting! This is what I suspected.

Tks.

B

_____

From: [mailto: ] On Behalf

Of ohgminion

Sent: Wednesday, May 04, 2005 9:06 AM

To:

Subject: Re: acetyl-L-carnitine

Since I've had eight or nine normal brain MRI's over the past 10

years, and one abnormal MR SPECT, I'd have to say MRI's aren't likely

to find lactate in the brain (they are " too general " ). I was having

a " good day " when I got the MR SPECT, so I was surprised they found

anything abnormal.

Take care,

RH

> > In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> > wheatchild@n... writes:

> >

> > What energy sources does the brain absolutely need besides

> > glucose? This is what I wonder. The reason I ask is that my SLEs

> usually

> > occur without any measurable lack of glucose

> >

>

>

>

>

>

>

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Guest guest

Thank you all for having this discussion! I'm using the doc with

the narrower definition - and it's been a little unsettling at

times. I think it may help me a little to at least understand that

his viewpoint may be a little different than others. It's what I

suspected - but hearing others discuss it, seems to give me a little

peace of mind for some strange reason.

Maggie

> Steve, I'm sure Malissa will answer, but here's what I understand.

Some

> experts use a narrower definition of " mitochondrial disorders " as

referring

> ONLY to defects in the mitochondrial respiratory chain complexes

and/or a

> defect in mtDNA. For example, Dr. Haas at UCSD (my son's doctor)

uses this

> narrower definition. Under this system, any defect in FAO is

referred to as

> a defect in energy metabolism, even though the beta oxidation

cycle and the

> Krebs cycle do take place in the mitochondrion. Articles written

by Sharon

> Hesterlee PhD. for MDA publications also use this narrower

definition. UMDF

> includes a broader group of disorders under their mito umbrella.

It's a

> matter of terminology and science evolving to the point where

everyone can

> agree on exactly which terms apply where. I suspect it will be

many years

> before mito nomenclature becomes standardized, given the glacial

pace of the

> scientific community---where personal opinions tend to become

entrenched and

> vigorously defended.

>

>

>

> Your distinction between FA and FAO is interesting as applied to

secondary

> defects. Secondary FAOs as presented in the lit still involve

actual

> deficiencies in FAO enzymes-assayed and confirmed--which would

inevitably

> impair FAO. It's just that the causative mutation resides in a

gene for

> another metabolic cycle. But actual FAO enzyme deficiencies exist

> secondarily, which then impair FAO. In fact, when an enzyme assay

initially

> detects a deficiency in any enzyme in any metabolic cycle, the

primaries

> look exactly like the secondaries-- except perhaps in the amount of

> reduction of activity, though that may be identical too. To sort

out

> primary from secondary deficiencies, further testing is necessary,

either

> biochemical or molecular genetic, etc. Sometimes one can only draw

> inferences and project likelihoods if the underlying mutations

have not been

> identified.

>

>

>

> Hope this helps.

>

> B

>

>

>

> _____

>

> From: [mailto: ]

On Behalf

> Of Steve

> Sent: Wednesday, May 04, 2005 2:34 AM

> To:

> Subject: Re: acetyl-L-carnitine

>

>

>

> Hi Malisa

>

> I'm confused when you say " Do you just have FAO's or do you also

have

> mito? " , implying (to my reading) that FAO is not a form of mito.

>

> I thought that FAO, i.e. fatty acid oxidation, took place IN the

> mitochondria. I do understand that many mito problems are in the

citric acid

> (aka Krebs aka TCA ) cycle and/or electron transport chain that

together

> underlies ALL energy production (i.e. glucose AND fatty acids).

But I

> thought that FAO defects were just one of many variants of mito

dysfunction.

> I also thought that some mito dysfunction is due to impaired

transport

> functionality at either the outer or inner mito membrane, and not

> technically IN the mitochondria at all. But these are all mito

related,

> whether it's membrane transport, beta-oxidation (fattty acids

only), or

> common-pathway energy production. IMHO not enough is known about

them all

> and how they relate to each other, to be leaving some types of

mito errors

> out of what's called " mito " . Even when the exact defect isn't

known, these

> mito diseases almost always share certain symptoms, especially

energy

> deficit.

>

> Even secondary (as opposed to primary) FAO dysfunction is still in

the

> mitochondria. I suppose one could argue that something very

systemic, in

> digestion and/or enzyme errors, that " merely " LEADS to too much or

too

> little FAO should not be considered mito. But again, if we're not

SURE

> whether an FAO problem is primary or secondary, I personally don't

think the

> term " mito " should be ruled out. After all, even the various

mitochondrial

> myopathies (including encephalomyopathies) described by the MDA are

> categorized only by symptom cluster, not error location. Also, even

> secondary FAO dysfunction will lead to energy deficit,

irregardless of

> cause. Maybe the problem I've having with terminology would be

solved by

> calling it FA (not FAO) dysfunction if it's secondary. Anyway, it's

> certainly worthwhile to label the PRIMARY defect location (when

it's known,

> of course).

>

> Forgive me, I don't mean to be splitting hairs, just trying to get

this

> straight in my mind. Very sorry if I have this all wrong. :-)

>

> Steve D.

>

> Date: Mon, 2 May 2005 23:23:15 EDT

> From: Malilibear@a...

> Subject: Re: acetyl-L-carnitine

>

> In a message dated 5/2/2005 10:15:16 AM Eastern Standard Time,

> wheatchild@n... writes:

>

> What energy sources does the brain absolutely need besides

> glucose? This is what I wonder. The reason I ask is that my SLEs

usually

> occur without any measurable lack of glucose

>

> Hi Barbara,

> Hmmm.....good question! Maybe your brain just lacks the ability to

convert

> that glucose into useable energy??

> Do you just have FAO's or do you also have mito? The way it's been

> described

> to me in the past is that FAO's don't typically involve as many

organ

> systems and symptoms as mito patients have. (please correct me if

I'm wrong

> on

> this!) So, if you have an additional mitochondrial disorder or

more than one

> FAO,

> maybe this is why you still present with symptoms even after having

> glucose?? I'm just guessing here though. I am on TPN with glucose

22 hrs a

> day right

> now and I am certainly not symptom free while on it, but that's

b/c of the

> mito, not b/c of the FAO. As soon as I come off of the TPN, within

several

> hours, I get very " out of it " and lethargic, sometimes my blood

sugar is low

> but

> sometimes it's not. It's during these times that I start running

into fatty

> acid dysfunction and my fatty acid labs look abnormal.

>

> It's definitely possible that he's referring to secondary FAO's

when he

> speaks of patients being okay on fats. I think everyone is

different with

> how

> they handle things...some people probably do okay while others

don't.

> Originally, he didn't want me to have lipids in my TPN when

acutely ill and

> that's why

> they were testing the FAO labs with lipids when I was really sick.

My labs

> actually looked BETTER at that time with lipids than without. This

was

> purely

> b/c I was getting enough calories for my body to utilize the

glucose

> correctly

> and not convert to fatty acid oxidation. As soon as the glucose

calories

> are

> decreased, I don't do well with the lipids.

>

> I doubt I answered your questions b/c all of this confuses me!

But, if you

> find more answers from your doctors, please share. I'd really like

to learn

> more about all of this.

>

> Also, thanks for asking how I am. I got out of the hospital on

> Friday...good

> news is that I didn't have a clot near my heart afterall. There

is some

> narrowing from the old clot, but no new clots which is great news!

Not so

> great

> news is that the new PICC that was placed on Thursday just

started hurting

> again today, so I may need to get it removed at some point this

week. I

> don't

> have anymore sites for PICC's and they found out that I don't have

any

> sites

> for central lines on the left side of my chest anymore. So, right

now the

> right

> side is the only place that they can put a new line. Hopefully

this PICC

> will get me through the week without a hospital stay!

>

> Thanks for thinking of me.

> Malisa

>

>

> 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.

>

>

>

>

>

> _____

>

>

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Guest guest

In a message dated 5/3/2005 5:47:56 PM Eastern Standard Time,

rakshasis@... writes:

This may be a dumb question, but would they consider leaving the PICC

out for a while? Is it just for medications, or for TPN too (hope

that isn't a stupid or personal question)?

HI RH,

Not a dumb question at all. In someone who wasn't using the PICC all the

time or didn't need IV access, they definitely could leave the PICC out for

awhile. For me, I use my TPN 22 hrs a day, so there's no way I could go without

some sort of central access. Even running TPN into a peripheral vein can be

damaging to the vein b/c of the high osmolarity of the TPN. The PICC goes

straight into the vein near my heart, like my permanent central line does.

A good site to get general info. on TPN is _www.oley.org_

(http://www.oley.org) They're a foundation for people on enteral and

parenteral nutrition (I

think my pic is still on their website!). Some people do come off of TPN.

There are people with cancer or surgeries who use it short term and then there

are people like me who are on it long term b/c the GI tract doesn't work. I do

eat a little bit (like 500 cals/day) but it's just not enough to sustain me.

A lot of people on TPN do trials of enteral feedings through a G or J tube

to see if that works and if it does, then they can come off of TPN and go on

enteral feeds.

A G-tube goes into the stomach and a j-tube goes into the small intestine.

If the stomach doesn't work but the small intestine does, someone would do

better with a J-tube. If the stomach works well, a g-tube would be fine.

Feel free to ask any other questions!

Malisa

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Guest guest

In a message dated 5/4/2005 9:55:31 AM Eastern Standard Time,

wheatchild@... writes:

Some

experts use a narrower definition of " mitochondrial disorders " as referring

ONLY to defects in the mitochondrial respiratory chain complexes and/or a

defect in mtDNA.

Hi Steve,

Barbara did a good job at explaining this. From what I understand FAO's are

a mito disorder, but are classified under the broader definition of them. I

definitely wasn't implying that the mitochondria aren't involved in FAO's. You

have a far greater understanding of the science of it than I do!

Malisa

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Guest guest

In a message dated 5/4/2005 9:55:31 AM Eastern Standard Time,

wheatchild@... writes:

Some

experts use a narrower definition of " mitochondrial disorders " as referring

ONLY to defects in the mitochondrial respiratory chain complexes and/or a

defect in mtDNA.

Hi Steve,

Barbara did a good job at explaining this. From what I understand FAO's are

a mito disorder, but are classified under the broader definition of them. I

definitely wasn't implying that the mitochondria aren't involved in FAO's. You

have a far greater understanding of the science of it than I do!

Malisa

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Guest guest

Thank you for the information, Malisa, it really helps me (and I'm

sure others :) understand it a lot better. I was looking for info on

the Oley Foundation, and found another interesting link:

http://www.iffgd.org/index.html

I'm going to have to review their site too, it seems to have some

interesting information about GI diseases. Two of my kids have mild

GI problems, but the third has a more significant problem

eating/swallowing. All three use Pediasure and similar for calorie

supplementation.

Take care,

RH

>

> In a message dated 5/3/2005 5:47:56 PM Eastern Standard Time,

> rakshasis@e... writes:

>

> This may be a dumb question, but would they consider leaving the

PICC

> out for a while? Is it just for medications, or for TPN too (hope

> that isn't a stupid or personal question)?

>

>

>

> HI RH,

> Not a dumb question at all. In someone who wasn't using the PICC

all the

> time or didn't need IV access, they definitely could leave the

PICC out for

> awhile. For me, I use my TPN 22 hrs a day, so there's no way I

could go without

> some sort of central access. Even running TPN into a peripheral

vein can be

> damaging to the vein b/c of the high osmolarity of the TPN. The

PICC goes

> straight into the vein near my heart, like my permanent central

line does.

>

> A good site to get general info. on TPN is _www.oley.org_

> (http://www.oley.org) They're a foundation for people on enteral

and parenteral nutrition (I

> think my pic is still on their website!). Some people do come off

of TPN.

> There are people with cancer or surgeries who use it short term

and then there

> are people like me who are on it long term b/c the GI tract

doesn't work. I do

> eat a little bit (like 500 cals/day) but it's just not enough to

sustain me.

> A lot of people on TPN do trials of enteral feedings through a G

or J tube

> to see if that works and if it does, then they can come off of TPN

and go on

> enteral feeds.

>

> A G-tube goes into the stomach and a j-tube goes into the small

intestine.

> If the stomach doesn't work but the small intestine does, someone

would do

> better with a J-tube. If the stomach works well, a g-tube would be

fine.

>

> Feel free to ask any other questions!

> Malisa

>

>

>

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