define phenylketonuria_?
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define phenylketonuria_?
Phenylketonuria : This inborn error of metabolism is also inherited as the autosomal recessive trait.
The affected individual lacks a liver enzyme called phenylalanine hydroxylase that converts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its poor absorption by kidney.
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