Research on metabolic disorder of maple syrup urine disease

doi:10.11852/zgetbjzz2017-25-02-10

Abstract

Abstract: Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acids and their derivatives including alpha ketoisocaproic acid (KICA),alpha-ketoisovaleric acid (KI-VA) and so on.The disorder inhibits indirectly the catabolism of alpha-hydroxy acids and Results in immense deposits of alpha hydroxy butyrate and a hydroxyl isovalerate in patient's urine and sweat which give rise to the classic "maple syrup" or burnt sugar smell.Acute elevations of branched chain amino acids and their derivatives cause metabolic encephalopathy,if no timely treatment of maple syrup urine disease will lead to seizures,coma and even death.The pathogenesis,clinical diagnosis and treatment of MSUD are reviewed in this paper.

Key words: maple syrup urine disease, branched chain amino acid, genetics, diagnosis, therapy, neonatal screening

摘要： 枫糖尿症(MSUD)是由于支链氨基酸及其衍生的α-酮异已酸、α-酮异戊酸等在血和脑脊液中蓄积,间接地抑制α-羟酸的分解,致使α-羟丁酸和α-羟异戊酸在患儿的尿和汗液中大量排泄,形成特异焦糖味而被称之为“枫糖尿症”。如果MSUD不能及时治疗将导致癫痫发作、昏迷、甚至死亡。本文对MSUD的发病机制,临床诊断及治疗研究进展进行综述。

关键词: 枫糖尿症, 支链氨基酸, 遗传学, 诊断, 治疗, 新生儿筛查

CLC Number:

R179

SONG Dong-po,LI Wen-jie. Research on metabolic disorder of maple syrup urine disease[J]. journal1, 2017, 25(2): 143-146.

宋东坡综述, 李文杰审校. 遗传代谢病枫糖尿症研究进展[J]. 中国儿童保健杂志, 2017, 25(2): 143-146.

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