Ontology highlight
ABSTRACT:
SUBMITTER: Lavery S
PROVIDER: S-EPMC3575040 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Lavery Stuart S Abdo Dima D Kotrotsou Mara M Trew Geoff G Konstantinidis Michalis M Wells Dagan D
JIMD reports 20120331
Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by a complete or near-complete deficiency of the liver enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine to tyrosine, leading to the increase of blood and tissue concentration of phenylalanine to toxic levels. PKU is not life threatening but is treated through lifelong dietary management. If untreated, it can lead to severe learning disability, brain function abnormalities, behav ...[more]