Catalog

Phenylketonuria, BH4 deficiency

No MMS code

Link to WHO Definition

Phenylketonuria, BH4 deficiency – http://id.who.int/icd/entity/144125175

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 BH4 deficiency.