Özet:

Maple syrup urine disease is a rare disorder of the catabolism of branched chain amino acids causing elevated quantities of leucine, isoleucine and valine and their respective ketoacids to accumulate in body fluids. The toxic metabolic components are leucine and the ketoacids. Acute elevations of leucine and alpha-ketoisocaproic acid cause metabolic encephalopathy and life-threatening brain edema. The clinical picture varies according to the severity of the metabolic defect. The neonatal form presents in the first week of life with life-threatening illness. The infantile or late-onset form has a more insidious presentation with failure to thrive, developmental delay, and other neurological features. Herein we report a 12-day-old patient with maple syrup urine disease who presented with acute encephalopathic crisis and meningitis

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