new mito seeks Pyruvate DCD(or PyruvateDD or PDH)patients

[Guest guest]

I'm a mito newbie trying to make contact individuals and families who have a

family member diagnosed with a form of thiamine

dependency disorder that falls under the " umbrella " of mitochondrial diseases

called PDCD (Pyruvate Dehydrogenase Complex

Deficiency), also called PDD (Pyruvate Dehydrogenase Deficiency). I think PDH is

another name for the same condition, but I'm

new to this and I'm not sure. I've been a member of the two adult mito

newgroups for several weeks and have been unable to make

contact with any PDCD folks there. I suspect the reason is that the disease is

more commonly linked to children, rather than adults.

Even though I understand that most mito specialist treat the entire gamut of

mito diseases, I'm trying to locate medical resources in

the USA with some experience (and/or special interest) SPECIFICALLY in treating

PDCD.

Thanks!

Anita in PA

[Guest guest]

Anita,

Our son has Complex 1 deficiency and Pyruvate deficiency as a secondary issue. He is on the keto diet and it has been very successful for him. We live in NJ. Feel free to email be privately as I do not like to discuss docs on the general list.

To my knowledge, there isn't a mito doc with a specific pyruvate speciality. There are so few mito docs that it isn't specified to types of mito.

Laurel

[Guest guest]

I am in Australia, so can't really help with mito specialists the

USa, but I am the mother of an 8 year old girl with PDH. She is Not

thiamine senstive, but is responsive to the keto diet (has been

doing the diet for over 5 years)-

ne

-- In Mito , " Anita " wrote:

> I'm a mito newbie trying to make contact individuals and families

who have a family member diagnosed with a form of thiamine

> dependency disorder that falls under the " umbrella " of

mitochondrial diseases called PDCD (Pyruvate Dehydrogenase Complex

> Deficiency), also called PDD (Pyruvate Dehydrogenase Deficiency).

I think PDH is another name for the same condition, but I'm

> new to this and I'm not sure. I've been a member of the two adult

mito newgroups for several weeks and have been unable to make

> contact with any PDCD folks there. I suspect the reason is that

the disease is more commonly linked to children, rather than adults.

> Even though I understand that most mito specialist treat the

entire gamut of mito diseases, I'm trying to locate medical

resources in

> the USA with some experience (and/or special interest)

SPECIFICALLY in treating PDCD.

>

> Thanks!

> Anita in PA

[Guest guest]

Hi ne, Thanks so much for your reply. It's very exciting for me to be making

contact with some people who have first hand

knowledge of the disease! I'm so glad that the ketogenic diet helps your

daughter and praying she is doing OK-er.

I've probably had PDCD since childhood, but it was mild until I contracted Lyme

Disease (from an infected tick bite) that went

misdiagnosed for 9 years. I think my mom also may have had it. I've read some

abstracts documenting that adults can have it, but

have not been able to make contact with any, nor any doctors who understand it.

Now that I know PDCD is considered a Mito Disease I

have my family doc reading Dr. Cohen's article on adult mito and (hopefully)

checking out the umdf webpage. I am hoping that with

this excellent info she will be able help me gain access to appropriate

resources.

I've been on a modified ketogenic diet for about a year(even before I knew that

it was a diet used for PDCD), because it was of the

things that helped control my symptoms. Thiamine injections and a few key

nutritional supplements also help A LOT.

Thanks and Best Wishes,

Anita

[Guest guest]

> I'm a mito newbie trying to make contact individuals and families

who have a family member diagnosed with a form of thiamine

> dependency disorder that falls under the " umbrella " of

mitochondrial diseases called PDCD (Pyruvate Dehydrogenase Complex

> Deficiency), also called PDD (Pyruvate Dehydrogenase Deficiency).

Anita, can you tell me what sort of symptoms you have? This is

something I have wondered about off/on with my son. Sometimes I

think, yes, this could be it. Then I'll read info from another

source and think, no way, must be something else. Lol.

I'm VERY interested in hearing from someone who is an adult with

this. My son does not have retardation, and he does not have gray

matter problems on his MRI. But he does have the intermittent ataxia

that goes with mild cases of PDHD, and periods of fatigue, and things

like that.

Thanks!

Lynne

[Guest guest]

> I am in Australia, so can't really help with mito specialists the

> USa, but I am the mother of an 8 year old girl with PDH. She is Not

> thiamine senstive, but is responsive to the keto diet (has been

> doing the diet for over 5 years)-

ne, can you tell me what symptoms your daughter has? This is one

of the conditions I have been wondering about with my son. Thanks!!

Lynne

[Guest guest]

Hi Lynne, It's SO nice to be making contact with people with whom we can pool

info.

The two most in depth souces of info about PDCD that I've been able to locate

are at

and on the umdf site at the very end of the " resources by

area "

page. All the info I have been able to locate is more oriented towards babies

and very small children rather than older children and

adults, but I have read enough abstracts to know that if the condition is mild

enough and treated, PDCD babies can grow in to

adulthood.

My family doctor and I are not totally sure I have PDCD, because I haven't been

able to find a mito specialist yet, but so far

symptoms,

test results and my EXTREME IMPROVEMENT on the specific supplements used to

treat it all point in that direction.

As I am finding out more about mito diseases it doesn't seem to me that my

symptoms are that much different

from other sdults with various other types of mito diseases. What seems to

differ from most of the other mitos I've been in contact

with is what works for me to control the symptoms i.e., thiamine injections

every 12 hours, plus other pyruvate complex

and thiamine pathway precursors including niacin, pantothenic acid, manganese,

biotin, alpha lipoic, pantothenic acid,

and magnesium malate as well as the " usual " L-Carnitineand Co Q 10. The

commonly prescribed mito coktail ingredient, B2

(riboflavin), makes my symptoms worse. I thrive on a modified ketogenic diet

(EXTREMELY low carb, high fat) and large doses of

Udo Blend Oil, an high in omega 3-6-9 fatty acids and organic butter.

My symptoms may have started out very mildly early on as a child with failure

to thrive, exercise intolerance, fatigue, weakness,

depressed immune system function, low threshold to stress/pain and a tendency

towards pulling muscles. I remember being put on

a B1/B12 tonic as a 7 year old.

In schoo,l left brain function (math, science, spelling, memory) was difficult ,

but I excelled in right brain (creative)

tasks. I currently earn my living as a professional musican and recently

" retired " from many years of university teaching as my

health deteriorated after the onset of Lyme Disease.

My brain MRI's have never shown anything terribly noteworthy (other than I still

have one! ). By now, my symptom list is quite

long. I'd like to be able to post an abbreviated version, but because it might

help your son or others, here it is in full length. Sorry

that it's long and BORING! I originally wrote this out for my doc, so there may

be a bit more info than necessary.

I have been taking all the components of my " SPECIFIC TO ME " mito cocktail and

on the ketogenic diet for almost a year and there has

been an EXTREME improvement in virtually all the symptoms except pain level,

fatigue, and exercise intolerance. I rarely CRASH

anymore, unless I get hot, tired and exercise or stress too much.

symptoms include:

fatigue

constant widespread neuritis

extremely carbohydrate intolerant (eating them worsens symptoms) (modified

ketogenic diet very helpful)

exercise substantially worsens symptoms

Exercise, stress, fatigue, or nervous system overload can cause the following

symptoms, which can range from mild to severe:

muscle weakness (especially of the legs), staggering, ataxia, tremors, jerking,

silent " brain explosions " , aphasia; minor heart

distress and

palpitations; sodium responsive hyperkalemia-type periodic paralysis episodes;

At these times the Romberg test is almost always abnormal. Supplemental oxygen

helps these more severe-type symptoms, as does

vitamin C,

pantothenic acid, salt, total rest and quiet

worse with heat

frequent muscle pulls with exertion; weak and loose joints; infrequent cramping

tendency towards both infection and non-infection related cystitis-type symptoms

hyperacusis; overly sensitive to both sights (especially bright or flickering)

and touch (clothing often hurts) .

low tolerance to stress. Nervous system overload easily.

low body temperature (96.9) and frequently low blood pressure

Wishing you and your son good-er days ahead.

Anita in PA

[Guest guest]

Hi Laurel,

We live in NJ too. Just wondering what Doctors you see and what Hospitals

do you go to. Most Doctors we see are at CHOP.

Barbara

>From: Dalsmith@...

>Reply-To: Mito

>To: Mito

>Subject: Re: new mito seeks Pyruvate DCD(or PyruvateDD or

>PDH)patients

>Date: Sun, 6 Jun 2004 07:10:39 EDT

>

>Anita,

>

>Our son has Complex 1 deficiency and Pyruvate deficiency as a secondary

>issue. He is on the keto diet and it has been very successful for him. We

>live in

>NJ. Feel free to email be privately as I do not like to discuss docs on the

>general list.

>

>To my knowledge, there isn't a mito doc with a specific pyruvate

>speciality.

>There are so few mito docs that it isn't specified to types of mito.

>

>Laurel

_________________________________________________________________

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[Guest guest]

Anita,

it is so promising (and surprising) to find someone with PDH who is

both older than gaby (almost 9 yeras) and well!!

Please share more !

ne mum to Gaby PDH with lots and lots of associated problems..-

-- In Mito , " Anita " wrote:

>

> Hi ne, Thanks so much for your reply. It's very exciting for

me to be making contact with some people who have first hand

> knowledge of the disease! I'm so glad that the ketogenic diet

helps your daughter and praying she is doing OK-er.

>

> I've probably had PDCD since childhood, but it was mild until I

contracted Lyme Disease (from an infected tick bite) that went

> misdiagnosed for 9 years. I think my mom also may have had it.

I've read some abstracts documenting that adults can have it, but

> have not been able to make contact with any, nor any doctors who

understand it. Now that I know PDCD is considered a Mito Disease I

> have my family doc reading Dr. Cohen's article on adult mito and

(hopefully) checking out the umdf webpage. I am hoping that with

> this excellent info she will be able help me gain access to

appropriate resources.

>

> I've been on a modified ketogenic diet for about a year(even

before I knew that it was a diet used for PDCD), because it was of

the

> things that helped control my symptoms. Thiamine injections and a

few key nutritional supplements also help A LOT.

>

> Thanks and Best Wishes,

> Anita

[Guest guest]

Hi ne, So sorry to hear that Gaby has so many problems. She's lucky to have

a mum like you!

I'm so excited (and surprised) to be finding that there may be " more " around

somewhat like me. I just have been looking

in the wrong age group. Still not SURE, SURE I have PCDC, but everything,

including many test results sure seem to point in that

direction (or some very related kind of mito) and every other possibilitiy seems

to have already been ruled out.

Even long before I got the Lyme Disease and it kicked my " mito symptoms " up many

notches I was very interested

in natural healing, watched my diet very carefully, and took a lot of

supplements. I noticed, even as a young adult,

that diet effected my symptoms a great deal. I haven't eaten sugar or refined

carbohydrates for years

(OK, maybe one ice cream cone, one slice of pizza and one Hershey bar a year:-).

I now take enough supplements

to proverbially " sink a ship " (or maybe that's sink my paycheck)....but unless I

do, I'm so sick I can't work...and there goes the

paycheck!

The supplements are ones very specific to my needs, somewhat based on a lot of

diagnostic vitamin/mineral/amino

acid blood and urine level testing and TRUELY based on a whole lot of trial and

error. I've come to the disease somewhat

" through the back door " . My doctors have mostly been MD homeopaths or MD's with

a strong interest in nutritional and

intergrated/Holistic medicine (except for the string of " haven't a clue " " idiot "

neurologists which we don't like to talk about).

Nobody spotted the thiamine dependency disorder (and maybe PDCD/potential mito)

until

my husband and I did a HUGE amount of reading up on the symptoms over a number

of years and figured out what was

probably going on. However, my Holistic-oriented docs DID approach the symptoms

and nutritional support in a unique way,

probably different from the way I would have been treated if we had thought mito

early on. I can't take drugs, even OCR ones without

risking a severe reaction, so I HAD to find other ways to control the symptoms.

I look forward to learning from you and hope I can contribute something back as

I learn more.

Best Wishes to you and Gaby,

Anita

===============================

In Mito , " stlavender " wrote:

> Anita,

> it is so promising (and surprising) to find someone with PDH who is

> both older than gaby (almost 9 yeras) and well!!

> Please share more !

> ne mum to Gaby PDH with lots and lots of associated problems..-