Pyruvate Dehydrogenase Complex Deficiency??

[Guest guest]

I don’t see this topic much? Anyone dealing with this

diagnosis now- or in the past? I understand the severity differs greatly male

to female- plus the variance of chromosome abnormality? Any other insights?? Or

info??

Suzanne

[Guest guest]

Suzanne,

we deal with PDH in our household every day. My daughter, Lexi (6 1/2) has some form of PDH, although as with eerything else in the mtio world she presents with "atypical" symptoms. Latest labs show decreased enzyme activity for her, but not absent activity. We are looking into some additional testing now, even though i have resisted doing it for several years only b/c the doc at Denver Children's thinks that if we can definitively show it's PDH, Lexi might be helped by the ketogenic diet (NOT something i'm looking forward to taking on!). anyway, that is the way things look from our corner of the world.

ruth

mito mom to Mitch (9 1/2) and Lexi (6 1/2), both mito affected and my treasures

[Guest guest]

My son was diagnosed with PDH about 5 months ago. It does affect

boys more. Most do not survive their first year if it is related to

the alpha e1. He has the defect somewhere further down e2 or e3. We

were put on the mito cocktail but really have not seen any better

results nor any worse results. I was considering the keogenic diet

but am going to try a modified Aktins diet. So far nobody has any

results that I know of regarding use of a modified Atkins diet. I

think it is worth a try since the keogenic diet is very difficult --

lots of measuring and very restrictive and the hospital wanted to put

a g-tube in him in case he went on a crisis and we could not

administer the diet to him. I spent over 8 years working with him to

not g-tube him and so far have been very successful with a few scary

months with really bad reflux about two years ago but managed to get

it under control. I am just waiting to hear from the GI Clinic if

there Atkins specialist with take us on as a case since he mostly

works with obese children. I need to lower the carbohydrates yet

keep the calories and the nutrional needs to keep him growing.

> I don't see this topic much? Anyone dealing with this diagnosis now-

or in

> the past? I understand the severity differs greatly male to female-

plus the

> variance of chromosome abnormality? Any other insights?? Or info??

>

>

>

> Suzanne

[Guest guest]

Sheldon was also diagnosed with PDH in January. I try to get him

as many fat calories as possible and lower carbs but it's very hard.

He often seems unable to digest fatty/high calorie foods and we're

considering a g-tube since he hasn't gained any weight in so long.

When he's in a brown-out, he vomits a lot and we have to be very

careful what/how much he eats and drinks.

My son was diagnosed with PDH about 5

months ago. It does affect

boys more. Most do not survive their first year if it is related

to

the alpha e1. He has the defect somewhere further down e2 or

e3. We

were put on the mito cocktail but really have not seen any better

results nor any worse results. I was considering the keogenic

diet

but am going to try a modified Aktins diet. So far nobody has

any

results that I know of regarding use of a modified Atkins diet.

I

think it is worth a try since the keogenic diet is very

difficult --

lots of measuring and very restrictive and the hospital wanted to

put

a g-tube in him in case he went on a crisis and we could not

administer the diet to him. I spent over 8 years working with

him to

not g-tube him and so far have been very successful with a few

scary

months with really bad reflux about two years ago but managed to

get

it under control. I am just waiting to hear from the GI Clinic

if

there Atkins specialist with take us on as a case since he mostly

works with obese children. I need to lower the carbohydrates

yet

keep the calories and the nutrional needs to keep him growing.

> I don't see this topic much? Anyone dealing with this diagnosis

now-

or in

> the past? I understand the severity differs greatly male to

female-

plus the

> variance of chromosome abnormality? Any other insights?? Or

info??

>

>

>

> Suzanne

Please contact mito-owner with any problems or

questions.

Yahoo!

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[Guest guest]

Lexi might be helped by the ketogenic diet (NOT something i'm looking forward to taking on

I did this diet for my son for about a year, really it is not that bad, it is kind of gross (the food) but once you get over that it does get better, and IT WORKS! I joined a group online that helped a lot with ideas. It was crazy the things I came up with, my son still remembers his salmon "pancake" (a little egg with lots of mayo and salmon fried in butter).

Good luck and you can do it!

J, Mom to , 15, mito unknown, and Mirella 9 months

[Guest guest]

My 9 year old daughter has PDH.

She is quite significantly affected (microcephaly, developmental

delay, cerebral palsy, gastic motility problems, vision problems,

epilepsy..)She has been on the keto diet (via g tube) for almost 6

years; and we have found the diet a BIG help to Gaby's quality of

life and general health.

My understanding is that as PDH is x linked;girls generally do

better than boys as they have 2 x chromosomes, and the 'good 'x' can

do a lot of work of the 'bad' 'x'

Boys having only one 'x; chromosome, have little reserve to call

upon, especially when there is a significant deficiency in the PDH

complex (needed for carbohydrate and glucose metabolism)-

So..my question is..how many peopel on the list are dealing with

PDH?? I don't often see mail from other affected families.

Gaby is fairly stable medically (due to the diet I feel), so she

doesn't have the big fluctuations in health issues. (she certainly

has had her fair share when she was younger though)

How about others?

ne, mum to Gaby in Australia

-- In Mito , " Embroidery Journal "

wrote:

> I don't see this topic much? Anyone dealing with this diagnosis

now- or in

> the past? I understand the severity differs greatly male to female-

plus the

> variance of chromosome abnormality? Any other insights?? Or info??

>

>

>

> Suzanne

[Guest guest]

PDH was what my son was supposed to be ruled out that has autism. INteresting that you say about carbs as the carbs have helped him and the coenzyme q10 and carnitor. How much wonderful he is doing in adolescents and since we got his lactate acid levels to just high above normal. But I know.. he will regress with a virus and stop eating and it is like starting over to get nutrition in him. But he did finally start growing and eating more stable once one the vitamins that I did lots of th em for 2 years or so. He is still in the 10% tile and think he grew 3 inches in the last half a year. So he looks so skinny. But amazing like tonight he had 3 huge helpings of spaghetti. We just know how fast this can change though.

Kathy

[Guest guest]

Hi,

My daughter Rebekah was diagnosed with PDCD at a year and a half old

through a muscle biopsy. She is now 5 years old and is doing better

that we ever expected! She is walking with a walker and goes to a

collaborative school full time and loves it. She hates taking her

mito cocktail(but who doesn't?!)but loves her two sisters and her

brother. I would love to talk to other moms out there who have

children with this particular mito disorder.All this support out

there means so much!! Thanks, Laurie

[Guest guest]

Laurie

Hi! I have a 9 year old daughter with PDH who wasn't expected to

live past her first birthday. She has multiple disabilities, but is

very alert, interactive with family and friends, and sings

beautifully (though can't communicate!!)

Would enjoy talking more with you

Sea, mum to Gaby PDH, Australia

> Hi,

> My daughter Rebekah was diagnosed with PDCD at a year and a half

old

> through a muscle biopsy. She is now 5 years old and is doing

better

> that we ever expected! She is walking with a walker and goes to a

> collaborative school full time and loves it. She hates taking her

> mito cocktail(but who doesn't?!)but loves her two sisters and her

> brother. I would love to talk to other moms out there who have

> children with this particular mito disorder.All this support out

> there means so much!! Thanks, Laurie