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...
Leucine is degraded in six enzymatic steps into acetoacetic acid and in the process acetyl-CoA is generated. The last enzyme in this path is 3-hydroxy-3-methylglutaryl CoA lyase. Deficiency of this enzyme causes acidosis (accumulation of acids) and reduction of sugar in the blood (hypoglycemia)...
Wang SP, Robert M-F, Gibson KM, Wanders RJA, Mitchell GA 1996 3-Hydroxy- 3-methylglutaryl-CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. Genomics 33:99 –104 20. Misra I, Narasimhan C, Miziorko ...
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...