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...
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...
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...
Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial -oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified stongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradeca...
WarC FrancomanoS rusowD VaF FrrmanS oodmanPediatric ResearchWabner, L., Francomano, C., Brusilow, S., Valle, D., Frerman, F. and Goodman, S. Medium-chain acyl-CoA dehydrogenase (MCD) deficiency. Pediatr. Res. 18 (1984) 302A...
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...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid β-oxidation impairment, leading to severe metabolic consequences. The inability to provide energy to tissues during glycogen depletion results in hypoketotic hypoglycemia,...
Treem WR, Stanley CA, Goodman SI (1989) Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. J Inherit Metab Dis 12(2):112–119 View ArticleTreem WR, Stanley CA, Goodman SI. Medium-chain acyl- CoA dehydrogenase ...
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]...