Abstract:Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12 th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the brain. The primary purpose of PKU treatment is to maintain the blood Phe level to prevent certain undesired effects. Hence, lifelong medical nutrition therapy is recommended for these patients.The usefulness of nat… Show more
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