Abstract

GOMEZ-CASTRO, JUAN FERNANDO; ESPINOSA-GARCIA, EUGENIA; BARRERA, LUIS ALEJANDRO  and  ECHEVERRY, OLGA Y. MAPLE SYRUP URINARY DISEASE: CLINICAL IMPROVEMENT ASSOCIATED WITH EARLY DETECTION AND MANAGEMENT. CASE REPORT AND LITERATURE REVIEW. rev.fac.med [online]. 2008, vol.16, n.1, pp.99-105. ISSN 0121-5256.

Maple syrup urine disease is an inborn error of the metabolism of branched chain keto-acids whose accumulation produces a serious neonatal encephalopathy, which if not diagnosed and treated in a precocious and opportune way, will invariably lead to the appearance of permanent neurological impairments and an ulterior lethal outcome. The present article intends, by means of the description of a clinical case which occurred at the Hospital Militar Central, to perform a review of the existent literature on this disease, to revise its fisiopathological mechanisms as well as its detection using different laboratory tests and the different care strategies, to demonstrate that, thanks to the progress achieved in its understanding and focus, at the present moment we can speak of avoiding mortality, accomplishing in many cases long term survival without important neurological consequences, all by means of an interdisciplinary approach that achieves an appropriate metabolic control.

Keywords : Metabolism inborn errors; keto acids.

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