Catalog

Classical phenylketonuria, phenylalanine hydroxylase total deficiency

No MMS code

Link to WHO Definition

Classical phenylketonuria, phenylalanine hydroxylase total deficiency – http://id.who.int/icd/entity/2053644170

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency.