Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are metabolic disorders that affect an enzyme required for the conversion of phenylalanine to tyrosine, leading to a build-up of the amino acid phenylalanine (Phe) in the blood. Increased blood levels of Phe are associated with negative neurologic outcomes, including intellectual disability. These negative outcomes are preventable with treatment that includes the restriction of Phe in the diet. PKU and HPA are optimally treated by an interdisciplinary team that addresses the nutritional, medical and social aspects of the condition.
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Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) – A Review
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