phenylketonuria

info · Genetic

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Signs and symptoms

Elevated urinary gamma-glutamylphenylalanine level
Increased level of hippuric acid in urine
Seizure
Fair hair
Elevated urinary phenylpyruvic acid level
Scleroderma
Cataract
Depression
Dry skin
Irritability

Medications that may treat it

nelfinavir pegvaliase sapropterin sepiapterin

Also known as: Folling's disease; PKU; maternal phenylketonuria; phenylalaninemia