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
一、疾病慨述 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...
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...
Molecular analysis of medium-chain acyl-CoAdehydrogenasedeficiency: A diagnostic approach. In: Coates P. Tanaka K, editors. New Development in Fany Acid Oxidation. NY:Wiey-Liss, 1992:441-452. 10. Schwarz EI. Skoheleva NA, Ilonen J, Akerblom HK. The frequency of MCAD mu- tation (K329E...
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...
Waber 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, S. Medium-chain acyl-CoA dehydrogenase (MCD) ...
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency Scand J Clin Lab Invest, 220 (1995), pp. 9-26 View in ScopusGoogle Scholar 2. OMIM (Online Mendelian Inheritance in Man) Baltimore. Johns Hopkins University, Center for Medical Genetics, 1998. http://www...
acyl-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 ...
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...