RESUMO
Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition to other modalities. Certain basic principles of dietary management should be clearly understood for proper management of these disorders. Commercially available diets are very expensive and modification in routine Indian diet may be tried based on content of different nutrients but the desirable fine control is not achieved.
Assuntos
Criança , Dietoterapia/métodos , Galactosemias/dietoterapia , Doença de Depósito de Glicogênio/dietoterapia , Homocistinúria/dietoterapia , Humanos , Doença da Urina de Xarope de Bordo/dietoterapia , Erros Inatos do Metabolismo/diagnóstico , Fenilcetonúrias/dietoterapiaRESUMO
Se muestran los resultados de 3 años de tratamiento con dieta baja en metionina a un paciente enfermo de homocistinuria. Se utilizaron los alimentos habituales en nuestro medio, proscribiendo algunos y restringiendo otros según su contenido en este aminoácido. Los resultados clínicos, de laboratorio y antropométricos se consideran, en general, favorables y constituyen la primera experiencia de este tipo en nuestro país