RESUMEN

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.

Asunto(s)

Amidinotransferasas/deficiencia , Creatina/uso terapéutico , Errores Innatos del Metabolismo/terapia , Amidinotransferasas/genética , Lactancia Materna , Creatina/análisis , Creatina/biosíntesis , Suplementos Dietéticos , Humanos , Recién Nacido , Espectroscopía de Resonancia Magnética , Masculino , Trastornos Mentales/etiología , Trastornos Mentales/terapia , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/genética , Leche Humana/química , Mutación , Fenotipo , Desempeño Psicomotor , Factores de Tiempo