晚发性维生素B2反应型多种酰基辅酶A脱氢酶缺乏症1例
摘要
<正>多种酰基辅酶A脱氢酶缺乏症(multiple acylCo A dehydrogenase deficiency,MADD)又称戊二酸血症Ⅱ型(glutaric aciduria typeⅡ,GAⅡ),属常染色体隐性遗传病,是由于编码线粒体的电子转运黄素蛋白(electron transfer flavoprotein alpha-subunit,ETF)α、β亚单位或电子转运黄素蛋白-泛醌氧化还原酶(ETF-QO)脱氢酶(electron transfer flavoprotein dehydrogenase,ETFDH)基因缺陷所致~([1])。MADD临床表现高度异质性,易误诊。根据其发病年龄及临
引文
[1]Grüner SC.Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency[J].Orphanet J Rare Dis,2014,9:117-124.
[2]Mumtaz HA,Gupta V,Singh P,et al.MR imaging findings of glutaric aciduria typeⅡ[J].Singapore Med J,2010,51(4):e69-e71.
[3]Tamaoki Y,Kimura M,Hasegawa Y,et al.A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000[J].Brain Dev,2002,24(7):675-680.
[4]Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report[J].J Inherit Metab Dis,2007,30(4):507-514.
[5]温冰,焉传祝.中国人核黄素反应性脂质沉积性肌病多是由ETFDH基因突变所致[J].中华神经科杂志,2010,43(5):363.
[6]章瑞南,邱文娟,叶军,等.多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较[J].临床儿科杂志,2012,30(5):446-449.
[7]Liang WC,Tsai KB,Lai CL,et al.Riboflavin-responsive glutaric aciduria typeⅡwith recurrent pancreatitis[J].Pediatr Neurol,2004,31(3):218-221.
[8]Olsen RK,Andresen BS,Christensen E,et al.Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-Co A dehydrogenation deficiency[J].Hum Mutat,2003,22(1):12-23.
[9]Cornelius N,Frerman FE,Corydon TJ,et al.Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-Co A dehydrogenation deficiency[J].Hum Mol Genet,2012,21(15):3435-3448.
[2]Mumtaz HA,Gupta V,Singh P,et al.MR imaging findings of glutaric aciduria typeⅡ[J].Singapore Med J,2010,51(4):e69-e71.
[3]Tamaoki Y,Kimura M,Hasegawa Y,et al.A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000[J].Brain Dev,2002,24(7):675-680.
[4]Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report[J].J Inherit Metab Dis,2007,30(4):507-514.
[5]温冰,焉传祝.中国人核黄素反应性脂质沉积性肌病多是由ETFDH基因突变所致[J].中华神经科杂志,2010,43(5):363.
[6]章瑞南,邱文娟,叶军,等.多种酰基辅酶A脱氢酶缺乏症儿童与成人患者临床特点比较[J].临床儿科杂志,2012,30(5):446-449.
[7]Liang WC,Tsai KB,Lai CL,et al.Riboflavin-responsive glutaric aciduria typeⅡwith recurrent pancreatitis[J].Pediatr Neurol,2004,31(3):218-221.
[8]Olsen RK,Andresen BS,Christensen E,et al.Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-Co A dehydrogenation deficiency[J].Hum Mutat,2003,22(1):12-23.
[9]Cornelius N,Frerman FE,Corydon TJ,et al.Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-Co A dehydrogenation deficiency[J].Hum Mol Genet,2012,21(15):3435-3448.