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丙二酰辅酶A脱羧酶缺乏症

Malonyl coenzyme A decarboxylase deficiency.

作者信息

Brown G K, Scholem R D, Bankier A, Danks D M

出版信息

J Inherit Metab Dis. 1984;7(1):21-6. doi: 10.1007/BF01805615.

Abstract

A patient is described with a deficiency of the mitochondrial enzyme, malonyl CoA decarboxylase - an inborn error of metabolism not recognized previously. The enzyme defect was first suspected because of persistent excretion of malonic and methylmalonic acids in urine in a child with repeated episodes of vomiting, some requiring hospitalization. Disturbances of lipid metabolism were demonstrated.

摘要

本文描述了一名患有线粒体酶丙二酰辅酶A脱羧酶缺乏症的患者,这是一种此前未被认识的先天性代谢缺陷。该酶缺陷最初是由于一名反复呕吐(部分需要住院治疗)儿童尿液中持续排泄丙二酸和甲基丙二酸而被怀疑的。脂质代谢紊乱得到了证实。

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