Medium chain acyl-CoA dehydrogenase deficiency human genome epidemi ology review. Genet Med 1999;1:332-9.Wang SS, Fernhoff PM, Hannon WH, et al. Medium chain acyl-CoA dehydrogenase deficiency human genome epi- demiology review. Genet Med 1999;1:332-9....
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...
Medium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein essential for the β-oxidation of medium chain fatty acids. MCAD deficiency (MCADD) is an inherited error of fatty acid metabolism. The gene for MCAD is located on chromosome one (lp31). One variant of the MCAD gene, ...
Minkler PE, Stoll MSK, Ingalls ST, Hoppel CL. Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC...
Results with octanoyl-CoA a s substrate indicated that patients had less than 2.5% normal activity of medium-chain acyl-CoA dehydrogenase. The activities of short-chain and isovaleryl acyl-CoA dehydrogenases were normal; the activity of long-chain acyl-CoA dehydrogenase was one-third normal. ...
chain-length specificity, but because the substrate used to monitor its activity was a short-chain species (C4), this enzyme was initially called short-chain-l-3-hydroxyacyl-CoA dehydrogenase (SCHAD). We prefer to use the term medium and short-chain (M/SCHAD) to define more ac...
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation in humans. To better understand the pathogenesis of this disease, we developed a mouse model for MCAD deficiency (MCAD) by gene targeting in embryonic stem (ES) ...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation in humans. To better understand the pathogenesis of this disease, we developed a mouse model for MCAD deficiency (MCAD) by gene targeting in embryonic stem (ES) ...
中文名: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial ELISA Kit中文别名: FOR MEDIUM-CHAIN SPECIFIC ACYL-COA DEHYDROGENASE, MITOCHONDRIAL ELISA KITCBNumber: CB28117964 分子式: 分子量: 0 MOL File: Mol file 化学性质 安全信息 用途 供应商 1 Medium-chain specific acyl-CoA dehydrogenase, ...