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...
Multiple acyl-CoA dehydrogenase deficiency (MADD): A disorder of fatty acid and amino acid metabolism, which is clinically very heterogeneous, ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy, and liver disease, to a mild childhood/adult disease with episodic metabolic...
and Goodman, S. Medium-chain acyl-CoA dehydrogenase (MCD) deficiency. Pediatr. Res. 18 (1984) 302AWaber L, Francomono C, Bmsilow S, Valle D, Fresman F, Goodman S 1984 Medium chain acyl-coA dehydrogenase (MCD) deficiency. Pediatr Res 18:302A...
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脱氢酶缺陷症例句>> 2) LCHAD deficiency 长链3-羟酰-辅酶A脱氢酶缺陷3) long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) 长链三羟基酰基辅酶A脱氢酶4) Medium Chain Acyl-CoA Dehydrogenase 中链脂酰基辅酶A脱氢酶...
Multiple-Acyl-Coa-Dehydrogenase-Deficiency网络多乙酰辅酶A脱氢酶缺乏 网络释义 1. 多乙酰辅酶A脱氢酶缺乏 ... Mothers Against Drunk Drivers 反对酗酒司机的母亲; multiple acyl-CoA dehydrogenase deficiency 多乙酰辅酶A脱氢酶缺…www.iciba.com|基于1 个网页©...