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, phenylketonurias, Folling's disease, maternal phenylketonuria ...
Linkouts: OMIM