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Biosalud
Print version ISSN 1657-9550
Abstract
GARCIA-RESTREPO, Natalia; HERNANDEZ-G., Jorge; LONDONO, María Laura and 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.
Conclusions:
The diagnosis in Colombia is belated, the interventions made from that moment are futile because the cognitive deterioration is irreparable. Therefore, it is imperative to carry out early diagnostic tests when medical interventions can still impact the clinical improvement of the patient with an important decrease of the morbidity characteristic of this pathology, making it necessary to expand the neonatal screening program which would be protected under the Colombian law of orphan diseases.
Keywords : phenylalanine; phenylketonuria; neonatal; metabolism; deficiency; amino acids; hydroxylase; screening; phenylalanine hydroxylase; hyperphenylalaninemia.
