Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilas

Abstract

Introduction: Phenylketonuria (PKU) is an error of the metabolism of the amino acids due to the gene mutation that codifies for the enzyme called phenylalanine hydroxylase (PAH). 564 cases of mutations in different exons have been reported. It has an autosomal recessive inheritance pattern and generates severe neurological and systemic consequences if it is not detected in the neonatal stage. Case report: 19-year-old man who was diagnosed with PKU at the age of 8 years, product of at term pregnancy, with non-consanguineous parents. He presented psycho-motor retardation, language delay, cognitive deterioration and poor social adaptation. Two types of mutation were determined: A severe type S349P and a mild type L348V. High serum phenylalanine levels (26.12 mg/dL ó 1567.2 μmol/L) allow classifying as classic PKU. Conclusion: It is important to carry out early molecular studies that allow correlating the genotype with the phenotype, which permit to predict the severity of the disease and to orientate to the correct treatment. Rev.cienc.biomed.2013;4(2):339-344

Keywords

• Phenylketonuria; Phenylalanine; Mutation; Phenylalanine hydroxylase; Neurological disorders.