medium-chain acyl-coenzyme A dehydrogenaseMCAD deficiencyepidemiologyreviewgeneMedium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein essential for the beta-oxidation of medium chain fatty acids. MCAD deficiency (MCADD) is an inherited error of fatty acid metabolism. The gene for MCAD...
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency Arch Dis Child, 69 (1993), pp. 292-294 View in ScopusGoogle Scholar 31. R. Boles, E. Buck, M. Blitzer, M.S. Platt, T.M. Cowan, S.K. Martin, H. Yoon, J.A. Madsen, M. Reyes-Mugica, P. Rinaldo Retrospe...
MEDIUM-CHAIN acyl coenzyme A dehydrogenase (MCAD) (EC 1.3.99.3) catalyzes the β-oxidation of straight-chain acyl-coenzyme A esters from C4 to C12 units in length. An MCAD deficiency is an inborn error of metabolism in which fatty acid oxidation is impaired. It is an autosomal recessive dis...
Medium-chain-acyl-coenzyme-A-dehydrogenase-deficiency网络缺乏症 网络释义 1. 缺乏症 中链醯辅?Α去氢?缺乏症(Medium-chain acyl-coenzyme A dehydrogenase deficiency)之基因确诊检验www.tnchb.gov.tw|基于2个网页© 2024 Microsoft 隐私声明和 Cookie 法律声明 广告 帮助 反馈...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid β-oxidation impairment, leading to severe metabolic consequences. The inability to provide energy to tissues during glycogen depletion results in hypoketotic hypoglycemia,...
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. It is known to be potenti... B Wilcken,J Hammond,M Silink - 《Archives of Disease in Childhood》 被引量: 249发表: 1994年 Sudden child death and "healthy" affec...
Yokota I, Indo Y, Coates PM, Tanaka K 1990 Molecular basis of medium chain acyl coenzyme A dehydrogenase deficiency: an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86:1000-1003 ...
A Parker,PC Engel - 《Journal of Enzyme Inhibition》 被引量: 4发表: 1999年 Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (MCADD) is an autosomal recessive inherited fatty acid oxidation disorder. In MCADD, mitoch...
Leung K-C, Hammond JW, Chabra S, et al: A fatal neonatal case of medium chain acyl coenzyme A dehydrogenase deficiency with homozygous A| G985 transition. J Pediatr 1992; 121: 965 - 968.Leung KC, Hammond JW, Chabra S, Carpenter KH, Potter M, Wilcken 8. A fatal neonatal case of ...
Medium-chain acyl-coenzyme A dehydrogenase deficiency Medium-Chain Fatty Acid medium-chain triglyceride medium-chain triglyceride medium-chain triglyceride (MCT) medium-chain triglyceride (MCT) medium-chain triglyceride (MCT) medium-chain triglyceride oil ...