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phenylketonuria

Used for:

phenylpyruvic oligophrenia

See for:

PKU

Broader Terms:

inborn aminoacid metabolism disorder

Broader Terms:

mental retardation

Related Terms:

autosomal recessive trait

Scope Note:

group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.

Term Number:

1849-1234


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