anyone caring for pyruvate dehydrogenase deficiency child?

[Guest guest]

My 21/2 year old was just diagnosed from her muscle biopsy. She was

symptomatic at 5 months. Is there anyone on this list with a child

with this condition? I can't find much out there on this.

Thank you!!!

[Guest guest]

Hi. My son, who is now 15mos., began showing signs of problems at 4

months when he began to have seizures. A mitochondrial disorder was

suspected early on, but it tooks several months and a muscle biopsy

to come to a PDH diagnosis and he has also been diagnosed with

Leigh's disease as a result of his PDH deficiency. PDH is a very

rare disorder, as are a lot of the other mitochondrial diseases, but

PDH particularly. I don't see a lot of postings on here for PDH. My

son is on a ketogenic diet, which we started last October. He's also

on a number of other supplements too, like most kids with

mitochondrial disorders. I think my son's PDH level is at about 23%

based on the muscle biopsy. I'd be happy to talk to you about this

more and our journey.

>

>

> My 21/2 year old was just diagnosed from her muscle biopsy. She

was

> symptomatic at 5 months. Is there anyone on this list with a child

> with this condition? I can't find much out there on this.

> Thank you!!!

>