3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症基因检测是对疾病名称为3-hydroxy-3-methylglutaryl-CoA lyase deficiency的遗传代谢性疾病所做的基于基因序列检测分析的、医学临床辅助诊断性检测。该病的英文名称还包括:3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency、3-OH 3-CH3 glutaric aciduria、3-OH 3-methyl...
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a disorder biochemically characterized by the predominant accumulation of 3-hydroxy-3-methylglutarate (HMG), 3-methylglutarate (MGA), 3-methylglutaconate and 3-hydroxyisovalerate in tissues and biological fluids of the affected patients. Neurol...
1. The activities of acetoacetyl-CoA thiolase, hydroxymethylglutaryl-CoA synthase and lyase and acetoacetyl-CoA deacylase were measured in homogenates of s... GD Baird,KG Hibbitt,J Lee - 《Biochemical Journal》 被引量: 60发表: 1970年 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase promoter...
HMGCS2 catalyzes the rate-limiting conversion of acetoacetyl-CoA and acetyl-CoA into 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA), which is further converted into acetoacetate by mitochondrial HMG-CoA lyase (Hegardt, 1999). Acetoacetate is finally converted into β-hydroxybutyrate by β-hydroxybutyrate...