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Disease Information for Reyes syndrome: Definition

An acute, potentially fatal metabolic disease seen primarily in children and characterized clinically by vomiting, hypoglycemia, and confusion, which may progress to coma. Pathologic features include cerebral edema and fatty infiltration of the liver and other organs. (From Adams et al., Principles of Neurology, 6th ed, p1120);mitochondrial dysfunction gives excess short-chain FA, hyperammonemia, cerebral edema. [ddx MCAD with URINE gas chromatography pattern. liver biopsy with electron microscopy show mitochondrial defect. Bx shows zero glycogen in hepatocytes.

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