Article
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.
American journal of medical genetics. Part A - 1 Aug 2026
Williams Aaron, Divin Kristian, Burrage Lindsay C, Craigen William J, Scaglia Fernando, Soler-Alfonso Claudia, Sutton V Reid, Glinton Kevin E, Marom Ronit
Abstract excerpt
Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This study aimed to identify risk factors for elevation of Phe > 360 μmol/L...
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