DISEASES

Disease-gene associations mined from literature

Human genes for phenylketonuria

Phenylketonuria [DOID:9281]

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Synonyms:  phenylketonuria,  DOID:9281,  Følling's disease,  maternal phenylketonuria,  phenylalaninemia ...

Linkouts:  OMIM