Resumo

GARCIA-RESTREPO, Natalia; HERNANDEZ-G., Jorge; LONDONO, María Laura  e  MURIEL-RAMIREZ, Richard. PHENYLALANINE HYDROXYLASE DEFICIENCY: CLINICAL SPECTRUM AND CURRENT DIAGNOSIS IN COLOMBIA. Biosalud [online]. 2018, vol.17, n.1, pp.49-64. ISSN 1657-9550.  https://doi.org/10.17151/biosa.2018.17.1.6.

Mutations in the PAH gene generate phenylalanine hydroxylase enzyme deficiency. Its final activity varies from almost null or undetectable in classical phenylketonuria to a residual activity of 10 to 35% of normal activity. This alteration corresponds to the innate more frequent error of the metabolism of the amino acids, affecting 1 of every 10,000 people. Different amounts of phenylalanine in blood translate into a broad spectrum of clinical manifestations including global developmental delay, intellectual disability, seizures, autistic traits, and aggressive behavior in the most severe cases. Early diagnosis through neonatal screening programs is considered a priority because timely interventions avoid damage to the central nervous system.

Palavras-chave : phenylalanine; phenylketonuria; neonatal; metabolism; deficiency; amino acids; hydroxylase; screening; phenylalanine hydroxylase; hyperphenylalaninemia.

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