Some information about PKU

From: (Sue theo b)
Subject: Re: PKU ???

Go to this web site
That is the national PKU information site. They have all the material to get you started and they know what is the latest info and support. Sue

From: (Mark Thorson)
Subject: Re: PKU ???

In article <01bd6a1c$c2d1cd80$>, dabluez wrote:

>My best friend's 1 month old has just one more test to confirm PKU. I hope
>it isn't true, but thought I'd jump the gun and ask what you all know about
>PKU diets.... any good books out there?? ---Jennifer

A terrible fate. People with PKU have to eat a synthetic diet, free of phenylalanine, which is akin to baby formula. No chocolate, no meat, none of the wonderful things in life.

There's an even worse fate. There's a term called "atypical PKU" which is a catch-all phrase covering several different diseases that look like PKU but do not respond to a phenylalanine-free diet. This includes an assortment of defects of metabolism, all of which are very rare, some of which are represented in the medical literature by only one person. I am reminded of a little girl in mainland China who is the only person known to have a defective GTP hydroxylase enzyme. If she's still alive (which I doubt), she'd be in her late teens or early twenties. It would be an interesting segment for the TV news (interesting to me, anyway) if someone would follow up on what happened to her.

Many forms of atypical PKU can be treated with experimental drugs, at enormous expense. These are forms in which pteridine synthesis is blocked. Pteridines are fundamental molecules for both neurotransmitter synthesis and the immune system. There have been a few trials of supplementing the diet with pteridines for these people, and it does work, but it doesn't work very well. You still have to supplement with L-dopa, because the pteridines do not penetrate the nervous system very well.

I don't mean to be frightening. You just happened to raise a subject I've done a little research on. The chance of your friend's baby having atypical PKU is very low -- a rare form of an already rare disease. But if that is the case, I would say there is not much chance that the baby's doctor would be familiar with atypical PKU, know where to order the drugs that might save the baby's life, or read the clinical reports on the experimental use of these drugs. If the diagnosis comes back as PKU but the phenylalanine-free diet doesn't work, I can send you copies of papers in the scientific and medical literature that the baby's doctor probably hasn't seen.