RESUMEN

A patient with guanosine triphosphate cyclohydrolase I deficiency passed the newborn phenylketonuria screening program. The characteristic clinical phenotype developed in a 5-month-old patient; elevated plasma phenylalanine, undetectable urinary pterins, and absence of the enzyme activity in a liver biopsy were present. A point mutation that results in an amino acid substitution from methionine to isoleucine at position 211 was proposed to be the cause for this new phenotypic expression of guanosine triphosphate cyclohydrolase I deficiency.

Asunto(s)

GTP Ciclohidrolasa/deficiencia , Fenilcetonurias/genética , Mutación Puntual , Secuencia de Bases , Biopterinas/análogos & derivados , Biopterinas/metabolismo , Biopterinas/uso terapéutico , Errores Diagnósticos , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Fenilcetonurias/diagnóstico , Fenilcetonurias/tratamiento farmacológico