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 dehydrogenasevascular remodellingShort-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 ...
Branched-Chain Amino Acids, Part B Charles R.Roe,Diane S.Roe, inMethods in Enzymology, 2000 Application The status of variousshort-chain acyl-CoA dehydrogenaseswas analyzed in intact fibroblasts. Normal cells and cells deficient in butyryl-CoAdehydrogenase(SCAD), and cells presenting bot...
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...
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 ...
with the branched-chain amino acids, leucine, isoleucine and valine, as well as palmitale, improves detection of the mild GAII variants; the propionyl-carnitine to isovaleryl/伪-methyl butyryl-carnitine ratio is a very sensitive index of impaired dehydrogenation of the branched chain acyl-CoAs....
Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of I... Investigates the influence of short/branched-chain acyl-CoA dehydrogenase deficiency on 2-Methylbutyrylglycinuria isolation. Identification of a...
The branched-chain acyl-CoA precursors, utilized to initiate fatty acid synthesis, are derived from branched-chain ketoacid dehydrogenase (Bkd), a multiprotein complex that converts α-keto acids to their corresponding acyl-CoAs; however, Bkd KO strains still contain BCFAs. Here, we show that ...
clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-coa dehydrogenase deficiency using tandem mass spectrometry 热度: role of isovaleryl-coa dehydrogenase and short branched-chain acyl-coa dehydrogenase in the metabolism of valproic acid implications for the branched-...
Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder. Objective. To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is no... Bok,A Levinus,Vreken...