丙二酸单酰辅酶A脱羧酶缺乏症
Malonyl coenzyme A decarboxylase deficiency.
作者信息
MacPhee G B, Logan R W, Mitchell J S, Howells D W, Tsotsis E, Thorburn D R
机构信息
Department of Biochemistry, Royal Hospital for Sick Children, Yorkhill, Glasgow.
出版信息
Arch Dis Child. 1993 Oct;69(4):433-6. doi: 10.1136/adc.69.4.433.
Abstract
Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency are described. Hitherto, the worldwide experience of the disorder has been confined to reports on two affected Australian children. The new cases are Scots born and are the offspring of consanguinous parents of Scots/Irish origin. They were investigated during episodes of vomiting and febrile convulsions associated with concomitant developmental delay. Malonic aciduria and grossly reduced malonyl CoA decarboxylase activity were demonstrated and the total ion current chromatograms of urinary organic acid profiles obtained by gas chromatography-mass spectrometry are presented. The clinical and biochemical features of the Scots and Australian patients are compared.
摘要
本文描述了两例新的丙二酰辅酶A（CoA）脱羧酶缺乏症病例。迄今为止，全球范围内关于该疾病的经验仅限于对两名受影响的澳大利亚儿童的报道。这两例新病例出生于苏格兰，其父母为有血缘关系的苏格兰/爱尔兰裔。他们在出现呕吐、热性惊厥并伴有发育迟缓的发作期间接受了调查。检测到了丙二酸尿症以及丙二酰CoA脱羧酶活性显著降低，并给出了通过气相色谱-质谱法获得的尿有机酸谱的总离子流色谱图。对苏格兰和澳大利亚患者的临床和生化特征进行了比较。
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