Five Cases Report With Maple Syrup Disease Over a Period Of 16 Years. Metabolic Screening, Detection of Inborn Errors of Metabolism at the Hospital Para El Nino Poblano, Mexico

The congenital inborn errors of metabolism (IEM) are detecTABLE diseases since 1908. Some of the most frequent IEM reported are fenilketonuria, galatosemy as albinism, cystinuria and porfiria and more rarely maple syrup urine disease reported in this study. It is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products are detected in the blood and urine. Case reported. 102 clinical cases with polymalformed muscle esqueletal and skull and dental dismorfies from this Hospital were already published Ma. De Lourdes Hurtado-Hernández et al, 2009, Figure I. Only 5 patients with maple syrup urine disease have been reported in a 16 years period of time Table 1, where the clinical evolution of one of the patients is reported in this study. Conclusions. Actually, the IEM are defined as monogenic inherited diseases or mendelian, due to a metabolic error for a protein or enzyme absence. It might be incompatible with the patient life and sometimes if the patient lives it will modify its quality of life, especially in a severe metabolic disease as it is maple syrup urine disease.