Term Name:	phenylketonuria
Synonyms:	Folling's disease, maternal phenylketonuria, phenylalaninemia, PKU
Definition:	An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Ontology:	Human Disease [DOID:9281]   ( DOID:9281 )