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Reduced Activity Of PAH Enzyme Can Cause The PKU Disorder

Phenylalanine hydroxylase (PAH) enzyme is responsable for converting phenylalanine amino acid into other important compounds in the body. It recieves instructions from the PHE gene, which can also mutate and reduce the Phenylalanine hydroxylase actvity, resulting in various PAH deficiency that causes Phenylketonuria (PKU) disorder,  with variant PKU and non-PKU hyperphenylalaninemia as disorders’ less severe variatons.

Want to learn more?


“The PKU Paradox: A Short History of a Genetic Disease” by Diane B. Paul and Jeffrey P. Brosco.

“Robert Guthrie–The Pku Story: Crusade Against Mental Retardation” by Jean Holt Koch.

“Low Protein Cookery for Phenylketonuria” by Virginia E. Schuett.

“Low Protein Food List for PKU” by Virginia E. Schuett.

“Low Protein Bread Machine Baking for PKU” by Virginia E. Schuett.

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