[group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase. ( CSP )]
UMLS (CSP) C0031485 Relation/PAR: Amino Acid Metabolism, Inborn Errors
Arrieration mentale
Relation/CHD: Phenylketonuria, Maternal