Por favor, use este identificador para citar o enlazar este ítem: http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2281
Título : Diagnosis of inborn errors of metabolism
Creador: Velázquez, A
Nivel de acceso: Open access
Palabras clave : Errores Innatos del Metabolismo -diagnóstico
Errores Innatos del Metabolismo - epidemiología
Errores Innatos del Metabolismo - genética
Fenilcetonurias - diagnóstico
Fenilcetonurias - epidemiología
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - epidemiology
Metabolism, Inborn Errors - genetics
Phenylketonurias -diagnosis
Phenylketonurias -epidemiology
errores congénitos del metabolismo
trastornos metabólicos hereditarios
Inborn errors of metabolism
Inherited metabolic disorders
Descripción : Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a high-risk population in Mexico between 1973 and 1998 with particular reference to the last 10 years, during which time infrastructure and support were considerably improved. Only disorders of intermediary metabolism were sought. The total number of patients studied is not available, but in the last 10 years, patients numbered 5,186. Routine metabolic screening was performed on all patients, with additional tests according to the clinical picture and screening results. The referral criteria have increasingly diversified, one-third being neurological conditions. Of the referrals, 33.8% were from pediatricians (31.1% of whom were at critical medicine departments) and the remainder from specialists. The number of diagnosed patients has increased to 1 per 43.9 patients studied. Amino acid defects have been the most prevalent, the proportion of organic acid and carbohydrate disorders having increased in the last 10 years, associated with improved diagnostic facilities. The most frequently diagnosed diseases were PKU, type 1a glycogen storage, and maple syrup urine disease (MSUD), their frequency apparently varying among different regions of Mexico. Other results of our program include training of specialists and technicians, development of the Latin American Metabolic Information Network, a procedure to locally prepare a special food product low in phenylalanine for the treatment of PKU patients, and extension of approaches for these disorders to the investigation metabolic derangements of infant malnutrition. This work demonstrates that inherited metabolic diseases constitute a significant load in pediatric pathology and that their study can and should be pursued in developing nations.
Colaborador(es) u otros Autores: Vela Amieva M
 Cicerón Arellano I
 Ibarra González I
 Pérez Andrade ME
 Olivares Sandoval Z
 Jiménez Sánchez G.
Fecha de publicación : 2000
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1016/S0188-4409(00)00053-9
Fuente: Arch Med Res 31(2):145-50
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2281
Idioma: eng
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