多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)是一种常见的脂肪酸氧化代谢紊乱,属常染色体隐性遗传,于1976年由Przyrembel等首次报道。 MADD是由于编码线粒体的电子转运黄素蛋白(ETF)α或β亚单位或电子转运黄素蛋白一泛醌氧化还原酶[ETF - QO],又称电子转运黄素蛋白脱氢酶(ETFDH)]...
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...
【概述】 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...
Google Share on Facebook acyl (redirected fromacyl CoA dehydrogenase deficiency) Thesaurus Medical Encyclopedia Related to acyl CoA dehydrogenase deficiency:Carnitine deficiency ac·yl (ăs′əl) n.Chemistry An organic group having the general formula RCO-, derived from an organic acid. ...
长链3-羟基酰基 CoA 脱氢酶缺乏症的英文名字是Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency。基因解码表明:是的,长链3-羟基酰基CoA脱氢酶缺乏症是由基因突变引起的。长链3-羟基酰基CoA脱氢酶是参与脂肪酸代谢的酶,其缺乏会导致脂肪酸无法正常代谢,从而引起疾病。这种缺乏症可以是由单个基因突变引起的,也...
Some of the symptoms overlap with those of the Reye syndrome and maple syrup urine disease. Reye syndrome , isovaleric acidemia , isoleucine-valine biosynthetic pathwaydoi:10.1007/978-1-4020-6754-9_213George P. RédeiSpringer Netherlands
CoA dehydrogenase deficiency (MCADD) is a prevalent FAOD that affects fatty acid chains of C6 to C12 length.[1]Medium-chain acyl-CoA dehydrogenase (MCAD) catalyzes the mitochondria's first step of medium-chain fatty acid oxidation.[2]MCADD is an autosomal recessive disorder caused by mutations ...
1)very-long-chain acyl-CoA dehydrogenase deficiency极长链酰基辅酶A脱氢酶缺陷症 英文短句/例句 1.Diagnosis of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Using Tandem Mass Spectrometry Combined with in-Vitro Acylcarnitine Profiling Assay成纤维细胞体外培养结合串联质谱酰基肉碱谱诊断极长链酰基辅酶A脱氢酶...
[1] STRAUSS A W,POWELL C K,HALE D E,et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood[J].Proc Natl Acad Sci USA,1995,92(23):10496-10500. ...
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 ...