3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症

定义 英文原文（暂无中文）

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

别名

HMG-CoA合酶缺乏症

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

相关基因 1

临床表型 3

外部标识与链接