Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia or glutaric aciduria type II, can be caused by mutations in three different genes (ETFA, ETFB, ETFDH), which are all involved in electron transfer in the mitochondrial respiratory chain. In most patients MADD is...
一、疾病慨述 多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)是一种常见的脂肪酸氧化代谢紊乱,属常染色体隐性遗传,于1976年由Przyrembel等首次报道。 MADD是由于编码线粒体的电子转运黄素蛋白(ETF)α或β亚单位或电子转运黄素蛋白一泛醌氧化还原酶[ETF - QO],又称电子转运黄素蛋白...
Multiple-Acyl-Coa-Dehydrogenase-Deficiency网络多乙酰辅酶A脱氢酶缺乏 网络释义 1. 多乙酰辅酶A脱氢酶缺乏 ... Mothers Against Drunk Drivers 反对酗酒司机的母亲; multiple acyl-CoA dehydrogenase deficiency 多乙酰辅酶A脱氢酶缺…www.iciba.com|基于1 个网页©...
Multiple Acyl-CoA-Dehydrogenase Deficiency (MADD): Use of Acylcarnitines and Fatty Acids to Monitor the Response to Dietary Treatment JOSÉ E. ABDENUR, NÉSTOR A. CHAMOLES, ANDREA B. SCHENONE, LÍA JORGE, ADOLFO GUINLE, CRISTINA BERNARD, VALERIY LEVANDOVSKIY, MARTA FUSTA, AND SILVANA LA...
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Assessment of three years of riboflavin treatment. Acta Paediatr. Scand. 77 (1986) 676–681Gregersen, N., Christensen, M. F., Christensen, E. and Kølvraa, F. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism, leading to metabolic acidosis, hypoglycemia, "sweaty-feet" odor, and early neon...
Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipdisosis Rev Neurol (2010) K. Gempel et al. The myopathic form of coenzyme Q deficiency is caused by mutations in the electron-transferring flavoprotein dehydrogenase (ETFDH) gene Brain (2007) I. Chanarin...
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts. Authors Ip, W C1 Hammond, J W Wilcken, B 1 NSW Biochemical Genetics Service, Royal...
multiple acyl‐CoA dehydrogenase deficiencypharmacokineticsD,Lydroxybutyrate (D,LB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl〤oA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism, leading to metabolic acidosis, hypoglycemia, “sweaty-feet” odor, and early ne...