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Can anyone tell me about Phenylketonuria?


can anyone tell me about Phenylketonuria i need info

Phenylketonuria (PKU) is a genetic disease of the human body where there is a deficiency of an enzyme that turns amino acid phenylalanine into tyrosine.

It is rare.

See the wiki page for a good description.

What happens is that the body levels of tyrosine drop (and some proteins cannot be made) and the phenylalanine is instead turned into phenylpyruvate which can be toxic to the nervous system and brain (hence cause intellectual disability).

The treatment for it is a diet free of phenylalanine (you may notice in the supermarket certain foods labelled okay for PKU sufferers).

check this page quite a bit came up on it..

http://search.yahoo.com/search;_ylt=A0oG...

"A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products."

Phenylketonuria is a clinical syndrome of mental retardation with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity. Diagnosis is by detecting high phenylalanine levels and normal or low tyrosine levels. Treatment is lifelong dietary phenylalanine restriction. Prognosis is excellent with treatment.
Please see the web pages and Google search for more details on Phenylketonuria.

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