Condition Description

Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Loss-of-function mutations in PAH, the rate-limiting enzyme in phenylalanine (Phe) catabolism, lead to the neurotoxic accumulation of Phe. Toxic Phe concentrations cause intellectual disability (in children), cognitive impairment, psychiatric disease, attention deficit disorders, epilepsy, depression, anxiety, and behavioral problems (de Groot 2009).

Status

Active and Recruiting Patients