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...
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
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)]...
【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...
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. [ac(id)+-yl.] American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Hough...
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 ...
14: 12-17 (1980) glutaric aciduria type I1 organic aciduria hypersarcosinemia sarcosinuria newborn Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria Type 11) with Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein STEPHEN I. ...
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: A diagnostic approach P. Coates, K. Tanaka (Eds.), New Development in Fatty Acid Oxidation, Wiley-Liss, NY (1992), pp. 441-452 View in ScopusGoogle Scholar 10. E.I. Schwarz, N.A. Skobeleva, J. Ilonen, H.K. Aker...
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...
athank you for wait me,you are nice!Goodnight 谢谢等待我,您是好的! 晚安[translate] ameiedith meiedith[translate] aNovel nutritional management regimen for very long-chain acyl-CoA dehydrogenase deficiency]. 新颖的营养管理养生之道为非常长链醯CoA脱氢酶缺乏)。[translate]...