[GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE].
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.
Grupo de Nutrición, Genética y Metabolismo, Facultad de Medicina, Universidad el Bosque, Bogotá D.C., Colombia.. paezpaola@unbosque.edu.co.
Paola Liliana
PL
Páez Rojas
Grupo de Nutrición, Genética y Metabolismo, Facultad de Medicina, Universidad el Bosque, Bogotá D.C., Colombia.. suarezfernando@unbosque.edu.co.
Fernando
F
Suarez Obando
D001927:Brain Diseases / Q000175:diagnosis; D003937:Diagnosis, Differential; D019468:Disease Management; D006801:Humans; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy