- 《英文msh词典》MSUD (Maple Syrup Urine Disease)
- [入口词] MSUD (Maple Syrup Urine Disease)
- [主题词] Maple Syrup Urine Disease
- [英文释义] 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)
下载手机词典可随时随地查词查翻译