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...
Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme in the fatty acid oxidation process, is not only involved in ATP synthesis but also regulates the production of mitochondrial reactive oxygen species (ROS) and nitric oxide synthesis. The purpose of this study was to investigate the ...
基因全名Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial 蛋白功能Has greatest activity toward short branched chain acyl- CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA...
3.3.1Acy-CoA dehydrogenases 3.3.1.1Rationale Presently, three members of the nine-member acyl-CoAdehydrogenase(ACAD)geneticsuperfamily have been clearly defined to play a significant chain-length-specific role in the completeoxidationof long-chain fatty acids within the mitochondrion. Very-l...
Keywords: Fatty acid oxidation; Myopathy; Multicore myopathy; Developmental delay; Short-chain acyl-CoA dehydrogenase deficiency; Ethylmalonic aciduria; Ashkenazi Introduction Short-chain acyl-CoA dehydrogenase (SCAD) (EC 1.3.99.2) catalyzes the dehydrogenation of butyryl- and ...
Short-chainacyl-CoA dehydrogenase (SCAD) de ciency: An examination o the medical and neurodevelopmental characteristics o 14 cases identi ed through newborn screening or clinical symptoms S.E. Waisbren a, * , H.L. Levy a , M. Noble a , D. Matern b , N. Gregersen c , K....
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation. SCADD is biochemically characterized by increased C4-carnitine in plasma and ethylmalonic acid in urine. The diagnosis of SCADD is confirmed by DNA analysis showing SCAD...
Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid β-oxidation, plays an important role in cardiac hypertrophy. However, its effect on the cardiomyocyte apoptosis remains unknown. We aimed to determine the role of SCAD in tert-butyl hydroperoxide (tBHP)-induced cardiomyocyte ...
First case report of short-chain acyl-CoA dehydrogenase deficiency in Chinadoi:10.1186/1687-9856-2013-S1-P181MinYanDepartmentJiangDepartmentLiDepartmentLiuDepartmentMinZhiDepartmentPengDepartmentCuiLiDepartmentLiangDepartmentHuiYingDepartmentShengDepartmentEBSCO_AspInternational Journal of Pediatric Endocrinology...
These data argue against the existence of tissue-specific SCAD isoforms in the mouse and confirm that this mouse strain is a model for the human organic aciduria resulting from this B-oxidation defect. (Pediatr Res 31: 552-556, 1992) Abbreviations SCAD, short-chain acyl-CoA dehydrogenase MCAD...