Fw: Amino acids, neurotransmitter deficiencies and mito?

[Guest guest]

Hi all,

Had signed off for a bit but am back on. I just sent this message to

another list, but thought it worth copying to these lists too, in case.

Looking for any input on where to go from here....for anyone who has

experience w/ amino acids/neurotransmitters, or doctors you know who might

be able to piece it all together. Thanks.

Barb Swoyer, Jake's mom

I'm wondering if anyone has any

> expertise as it pertains to seizure disorders and amino acid and

> neurotransmitter deficiencies. Jake has deficient levels of both

> serotonin and dopamine which have been consistent now through two

> series of CSF tests at Baylor Labs. When we supplemented dopamine w/

> LDopa, or Sinemet, he got worse. In addition, he has suspected mito

> disease (unspecified). Muscle biopsy was positive for mito, DNA

> follow up was normal, but he has other markers. Not a typical mito

> kid though. In addition, we have done amino acid screening and his

> latest amino acids test, via CSF, shows that he has non-detectable

> levels of aspartic acid, hydroxyproline, glutamic acid, proline, and

> tryptophan. He also has low levels of tyrosine, and elevated levels

> of citrulline, valine, systine and leucine. We are checking now on a

> new disease called 3-methylglutaconic aciduria but are unsure of a

> diagnosis at this point. He is still seizing daily.

> Wondering if any list members have experience with any of this, esp.

> with regard to amino acid and neurotransmitter deficiencies. Or...if

> anyone knows a good solid doctor who might be able to help us piece

> it all together. We live in Boston but are willing to consult just

> about anywhere.

> Thanks in advance for any advice to be offered.

> Barb Swoyer, Jake's mom, Boston

>

[Guest guest]

my daughters doc Dr. Saneto at childrens in seattle is one of 5 epi's that

specialize in mido disorders, you could definitly consult with him, he is

wonderful we would travel the world to still see him. He came from

cleveland clinic i think that is where the other epi's are that specialize

in mido disorders. I know he's booked about 4months out so i'd call asap.

let me know if want to email him and i'll send you his email to your email

address.

amanda

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