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以共济失调为首发主要症状的幼儿枫糖尿症一例 被引量:2

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摘要 讽糖尿症(maple syrup urine disease,MSUD)是一种氨基酸代谢病,是由于细胞线粒体基质内支链α酮酸脱氢酶多酶复合体功能缺陷导致支链氨基酸(亮氨酸、异亮氨酸、缬氨酸)在体内蓄积,引起中枢神经系统的损伤,因其尿具有特殊的枫糖气味而得名[1]。
出处 《中国小儿急救医学》 CAS 2020年第9期717-718,共2页 Chinese Pediatric Emergency Medicine
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