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 deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively ...
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 deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. From:Molecular Genetics and Metabolism,2008
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....
First case report of short-chain acyl-CoA dehydrogenase deficiency in Chinadoi:10.1186/1687-9856-2013-S1-P181MinYanDepartmentJiangDepartmentLiDepartmentLiuDepartmentMinZhiDepartmentPengDepartmentCuiLiDepartmentLiangDepartmentHuiYingDepartmentShengDepartmentEBSCO_AspInternational Journal of Pediatric Endocrinology...
Amendt, Brad ANorbeck, Betty AMoon, Anne MRhead, William JRobillard, JPediatric ResearchAmendt BA, Norbeck BA, Moon AM, Rhead WJ (1985) A new defect of β-oxidation: short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 19 : 309A....
Short-chain acyl CoA dehydrogenase (SCAD) is an example of a mitochondrial enzyme which, when defective, can cause several cellular defects, including mitochondrial fragmentation, autophagy and oxidative stress[2], [3]. SCAD deficiency (SCADD) is an inherited autosomal recessive disorder through ...
Detection and diagnostic confirmation of the mild variants of glutaric acidemia, type II (GAII), also termed ethylmalonic-adipic aciduria, and short chain acyl-CoA dehydrogenase deficiency (SCAD) and its variants are problematic and challenging at both the clinical, biochemical and molecular levels....
Short-Chain Acyl-CoA Dehydrogenase Short-chain acyl-CoA dehydrogenase deficiency Short-chain acyl-coenzyme A dehydrogenase deficiency short-chain dehydrogenase/reductase family 41C, member 1 Short-Chain Enoyl-CoA Short-chain fatty acid Short-Chain L-Carnitine Esters ...