Phenylketonuria (PKU): A mutation condition

Phenylketonuria (PKU): A mutation condition

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Phenylketonuria (PKU) is caused by mutation of the phenylalanine hydroxylase gene → Phenylalanine hydroxylase deficiency → Failure of conversion of phenylalanine to tyrosine in the liver →High serum concentration of phenylalanine which is neurotoxic →Progressive cerebralmyelination. In addition the minor pathways of phenylalanine metabolism produce phenyl pyruvic acid (“phenylketone”) and phenyl acetic acid which are excreted via the urine.

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Phenylketonuria (PKU): A mutation condition

Phenylketonuria (PKU) is clinically characterized by:

Progressive mental deterioration usually pronounced by age 1.       

Seizures.

Hyperactivity and other neurologic abnormalities.

Decreased pigmentation of hair, eyes and skin. (Children are characteristically blond and blue-eyed).

Mousy body odour from phenylacetic acid in urine and sweat.

Treatment

Phenylketonuria (PKU) can be successfully treated by a phenylalanine–free diet. Screening tests for serum phenylalanine or urinary catabolites are ordinarily performed on the 3rd or 4th day of life.

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