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-CoAdehydrogenasedeficiency (SCADD) is a disorder of mitochondrialfatty acid oxidationthat leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed throughnew...
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...
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 (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 ...
Short-Chain Acyl-Coenzyme A Dehydrogenase Activity, Antigen, and Biosynthesis Are Absent in the BALB/cByJ Mouse BRAD A. AMENDT,' ERIC FRENEAUX, CAMERON REECE, PHILIP A. WOOD, AND WILLIAM J. RHEAD Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242 [B.A.A., E.F., C....
Short-chain L-3-hydroxy-2-methylacyl-CoA dehydrogenase (SC-HMAD), a soluble mitochondrial enzyme, was purified 6000-fold from rat liver in 6% yield by a six-step purification procedure. The purified enzyme was homogenous as judged by gel electrophoresis in the presence of sodium dodecyl ...
Moon, 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.Amendt, B. A., Norbeck, B. A., Moon, A. M. and Rhead, W. J. A new...