Ontology highlight
ABSTRACT:
SUBMITTER: Williams RA
PROVIDER: S-EPMC2423317 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Williams Robin A RA Mamotte Cyril D S CD Burnett John R JR
The Clinical biochemist. Reviews 20080201 1
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction ...[more]