Quinoid dihydropteridine reductase deficiency (medical condition)

A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood. See also Phenylketonuria type 2