短链酰基辅酶A脱氢酶缺乏症(Short-chain acyl-CoA dehydrogenase deficiency)分子诊断基因检测 短链酰基辅酶A脱氢酶缺乏症是一种罕见的遗传性代谢疾病,主要由于SCAD基因的突变导致短链脂肪酸代谢障碍。为了进行分子诊断基因检测,可以通过检测患者的DNA样本,特别是SCAD基因的序列,以确定是否存在突变。这种基因检测可以帮助医生...
这种情况在常染色体中遗传 中链酰基辅酶A脱氢酶缺乏症,通常称为MCAD缺乏症或MCADD,是一种脂肪酸氧化病,会损害身体将中链脂肪酸分解成乙酰辅酶A的能力。该疾病的特征是低血糖和猝死,没有及时干预,最常见的是禁食或呕吐。 在扩大新生儿筛查之前,MCADD是婴儿猝死的未被诊断的原因。在症状出现之前已经鉴定的个体具有良好...
The fatty acyl-CoA chain length is thus shortened by two carbons and re-enters the beta-oxidation pathway. Many of the beta-oxidation enzymes have relative affinities for different fatty acid chain length and are named accordingly (e.g., MCAD). MCAD (EC1.3.99.3) is a homotetrameric enzyme...
极长链酰基辅酶A脱氢酶缺乏症(very long chain acyl-CoA dehydrogenase deficiency, VLCADD,MIM201475)是由于细胞线粒体内脂肪酸β氧化中的关键酶极长链酰基辅酶A脱氢酶(very long chain acyl-CoA dehydrogenase,VLCAD)基因先天缺陷所致的常染色体隐性遗传疾病,是一种较罕见的遗传代谢性疾病。极长链酰基辅酶A脱氢酶缺乏...
Vol. 1 No. 7 Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review Sophia S. Wang, phDis2,P a u l M.Fernhofi MD', W. H a r r y Hannon, P~D*a, n d Muin J. Khoury, MD, phLI2 Medium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein ...
S rusowD VaF FrrmanS oodmanPediatric ResearchWaber L, Francomono C, Bmsilow S, Valle D, Fresman F, Goodman S 1984 Medium chain acyl-coA dehydrogenase (MCD) deficiency. Pediatr Res 18:302AWabner, L., Francomano, C., Brusilow, S., Valle, D., Frerman, F. and Goodman...
3.3.1Acy-CoA dehydrogenases 3.3.1.1Rationale Presently, three members of the nine-member acyl-CoA dehydrogenase (ACAD) genetic superfamily have been clearly defined to play a significant chain-length-specific role in the complete oxidation of long-chain fatty acids within the mitochondrion...
中文名:long-chain-acyl-CoA dehydrogenase,英文名:long-chain-acyl-CoA dehydrogenase,CAS:59536-74-2,MSDS.
'Long-Chain Acyl-CoA Dehydrogenase Deficiency' published in 'Encyclopedia of Molecular Mechanisms of Disease'
Acyl-CoA Dehydrogenase, Long-ChainDiagnosis, DifferentialPrognosisMutationLong-chain acyl-CoA dehydrogenase deficiency; VLCAD Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a defect of the mitochondrial betaoxidation of long-chain fatty acids. There are three......