what is phenylketonuria and what are its causes and symptoms?

Answer 1

PKU is short for Phenylketonuria. PKU is a metabolic disorder - and called an inborn error of metabolism. It is caused by inheriting a condition where the individual does not make a particular enzyme and is unable to metabolize phenylalanine. If undetected in infancy, this substance builds up and causes brain damage & mental retardation. Phenylalanine is a common substance in foods. A special diet with NO phenylalanine can prevent mental retardation. This condition is detected by testing newborns. An initial test is done on the newborn while still in the hospital, and a followup test is done usually in 10 days. The lab collects drops of blood on a special paper form from a heel stick.

Answer 2

also know as pku
its mostly diagnosed in child hood....
and screened at birth
its because of a deficiency of an enzyme called phenylalanine ...which is converted in to tyrosine
In PKU there is deficiency of phenylalanine hydroxylase
the tyrosine becomes essential and phenylalanine builds up ,leading to excess phenylketones

the findings it not treated.....would be
>musty odor
> fair skin
>eczema
>fair skin
>mental retardation

thought treatment is possible..before all this
just with the diet
by taking reduced amount of phenylalanine (contained in Nitra sweet )and increase amount of tyrosine in diet.

Answer 3

Phenyl ketonuria is a condition, in which the enzyme that converts phenly alanine to tyrosine is defiient. The enzyme is phenyl alanine hydroxylase.

Answer 4

Please see the webpages for more details on Phenylketonuria.