- 《英文msh詞典》Intermediate Maple Syrup Urine Disease
- [入口詞] Intermediate Maple Syrup Urine Disease
- [主題詞] Maple Syrup Urine Disease
- [英文釋義] An autosomal recessive inherited disorder with multiple forms of phenotypic expression,caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS,BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic,intermediate,intermittent,and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis,hypoglycemia,emesis,neonatal seizures,and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al.,Principles of Neurology,6th ed,p936)
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