Phenylketonuria


Hello again

I thought you might be interested in some more facts about PKU (Phenylketonuria) testing in newborns.

According to Taber's Cyclopedic Medical Dictionary (copyright 1970), "about 0.5% of mental defectives suffer from this disease." ( I know, I know, not exactly PC to talk about defectives, but this was 1970) Now this isn't 0.5% of the general population but only 0.5% of this smaller part of the population. --- Really rare. ---

Why has so much effort been put into mandated testing for this? Of all the other things that could affect children, why this one thing?

Moving up to current data, suddenly it seems to be a larger problem, affecting 1 in 16,000 births according to the online medical encyclopedia, http://content.health.msn.com/content/asset/adam_disease_pku. (adam disease???)

Now it gets more interesting, because according to this site, this amino acid, phenylalanine, is involved in the production of melanin, and children who have this metabolic disorder generally have light skin, blond hair and blue eyes. hmmm...

The test itself is very simple, and certainly within the capabilities of any hospital lab, yet we have to send them to the state along with full information about the parents names, birthdate of the child and current address. This is the only mandatory state testing that we have, and again I ask, why this? There are certainly many things that can affect children's development and we are not required to test for them. The disease if untreated can cause mental retardation, and certainly no parent would want to risk this.

But why is the state involved?

Thanks.
J






08-10-01


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