What is PKU?

PKU is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydrozylase (PAH). This enzyme is required for the breakdown of phenylalanine (Phe), an amino acid found in all protein-containing foods. When PAH is deficient or defective, Phe accumulates to abnormally high levels in the blood. Learn more about PKU from those living with the disorder.
--
BioMarin is a global biotechnology company focused on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases.
www.BioMarin.com
/ biomarinofficial
/ biomarin
/ biomarinofficial