Classical phenylketonuria, phenylalanine hydroxylase total deficiency (Q94414): Difference between revisions

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Latest revision as of 09:33, 16 August 2026

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency.

Language	Label	Description	Also known as
default for all languages	ID_2053644170
English	Classical phenylketonuria, phenylalanine hydroxylase total deficiency	Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency.