What is PKU?
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- Опубліковано 18 вер 2020
- 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.
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