Abstract

PAEZ ROJAS, Paola Liliana  and  SUAREZ OBANDO, Fernando. Genetic and metabolic urgencies in the neonatal intensive care unit: maple syrup urine disease. Nutr. Hosp. [online]. 2015, vol.32, n.1, pp.420-425. ISSN 1699-5198.  https://dx.doi.org/10.3305/nh.2015.32.1.8996.

Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased activity of the branched-chain alpha- ketoacid dehydrogenase complex (BCKAD), which leads to abnormal elevated plasma concentrations of branched-chain amino acids (BCAAs) clinically manifested as a heavy burden for Central Nervous system. The toxic accumulation of substrates promotes the development of a severe and rapidly progressive neonatal encephalopathy if treatment is not immediately given. This disorder has a specific medical management in acute phase in order to minimize mortality and morbidity. For all those reasons, it is important to include the MSUD as a possible diagnosis in a encephalopathic newborn. We present a colombian newborn with classical MSUD with fatal outcome as an example of metabolic emergency and a differential diagnosis in the encephalopathic newborn.

Keywords : Maple syrup urine disease; Inborn errors; Amino acid metabolism; Encephalopathy; Neonatal screening; Medical genetics.

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