It is a genetic disorder that is autosomal dominant.

Children with phenylketonuria commonly have a musty odor to their urine.

Hypopigmentation of the hair, skin, and irises is a prominent sign of the disorder.

Common manifestations of PKU include lethargy, poor feeding, vomiting, diarrhea, hypoglycemia, and metabolic acidosis.

With PKU, the hepatic enzyme phenylalanine hydroxylase is over produced by the body.