线粒体HMG-CoA合酶缺乏症的诊断。
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
作者信息
Zschocke Johannes, Penzien Johannes M, Bielen Rainer, Casals Núria, Aledo Rosa, Pié Juan, Hoffmann Georg F, Hegardt Fausto G, Mayatepek Ertan
机构信息
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
出版信息
J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854.
Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.
3-羟基-3-甲基戊二酰辅酶A（HMG-CoA）合酶缺乏是唯一一种专门影响肝脏生酮作用的疾病，是低血糖昏迷的一个病因。我们报告，在急性发作期间，通过典型的实验室检查结果（低酮血症、游离脂肪酸升高、酰基肉碱正常、特定的尿有机酸）可做出诊断。
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