Hi Anne, Re: PDH-Anita

[Guest guest]

Hi Anne, So nice to " meet " you. Sorry to hear that your biopsy

came back negative, even though you have the symptoms. That

must have been disappointing. I'm assuming that it was a

muscle biopsy rather than a fibroblast biopsy? Just asking

because I have heard the latter doesn't show the t.r. type of PDH.

Glad your daughter was able to get a definitve dx. Also gald to

hear that you have a good neurologist. Goods ones seem to be

hard to find.

The info I have is for the much more rare (especially in an adult)

form of PDH, the " Thiamine-Responsive PDH form. From all the

info I have been able to collect (pityfully little) , it appears to be

distinctly different from " normal " PDH. It appears that t.r. PDH

presents somewhat differently, is tested for somewhat differently

and the Rx is somewhat different. The first clue in testing in for

t.r.PDH is if the thiamine (vitamin B1 ) levels are EXTREMELY

low, even with a great deal of supplementation. As far as I have

been able to find out, two of the other " definitve tests " seem to

be only available at Cleveland Clinicl ( Co Q 10 free and total

levels) and the Mayo Clinic (orotic acid).

Admitedly the pool of other patients with this form is VERY small,

but our symptoms seem to match up amazingly closely in a way

that others with " normal " PDH and other forms of mito do not.

SO, please understand that the info I am relaying IS NOT AT ALL

definitive or necessarily correct, it's just what appears to be true

for the 3 people I have been able to locate with " my " form (and

two are related) .

While it seems that " regular " PDH patients tend to be extremely

weak with a lot of neuromuscular/MD type symptoms. It seems

that the " Thiamine Responsive " kind can look and present totally

normal, so you'd never even guess that they were sick (even with

" almost normal " muscle strength) and, although extremely

fatigued, may present in a hyper (almost manic) state, unable to

rest till they crash with seizure-type symptoms, ataxia, etc.,

sometimes ending up in a peridoic paralysis episode (looks

like catatonia or a coma) . Where it appears that " normal " PDH

folks seem to have more problems with constipation, it seems

the t.r. PDH folks have many more problems with diarrhea.

Hypersensitivity also seems to be the norm. Carb intolerance

appears to be common.

If you think this might describe you and you'd like the test list, I

will try to get permission to

send it to you from the person who shared it with me (it's a

certain well known geneticist's protocol (and they are his only t. r.

PDH patients). Please send me an e-mail if you'd like me to try.

Best Wishes,

Anita