3-MCC缺乏症的英文名字是3-MCC deficiency。基因解码表明:3-MCC缺乏症是一种遗传性代谢疾病,与基因突变密切相关。3-MCC缺乏症是由于3-MCC基因中的突变导致酶活性降低或有效丧失,从而影响了3-甲基丙酮酸羧化酶的功能。 3-MCC基因位于人类染色体3q27.1上,编码3-甲基丙酮酸羧化酶(3-MCC酶)。这种酶在氨基酸代谢...
3-MCC缺乏症的英文名字是3-MCC deficiency。基因解码表明:佳学基因采用基因解码表明,3-MCC缺乏症是由基因突变引起的。这种疾病是由于3-MCC基因中的突变导致酶3-甲基丙酮酸羧激酶的功能缺陷,从而影响了对3-甲基丙酮酸的代谢。这种基因突变可以是遗传的,通常是由父母传给子女的。
Outcomes of cases with 3- methylcrotonyl-CoA carboxylase (3-MCC) deficiency-Report from the Inborn Errors of Metabolism Information System [J]. Mol Genet Metab,2016,118(1) :15-20.Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL and Inborn ...
摘要 目的:初步明确3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-CoA carboxylase deficiency,MCCD)在石家庄地区新生儿中的患病率及基因变异特点。方法:采用串联质谱技术对石家庄...展开更多 Objective:To determine the prevalence of 3-methylcrotonyl-CoA carboxylase deficiency(MCCD)in neonates in Shijiazhuang City...
CEREBRAL ACCUMULATION OF 3-HYDROXYISOVALERIC ACID IN ADULTS UNTIL RECENTLY UNAWARE OF HAVING 3-METHYLCROTONYL-COA CARBOXYLASE (MCC) DEFICIENCY作者:Van der Graaf M; Engelke U F H; Morava E; Janssen M C H; de Vries M C; Kluijtmans L A J; Goraj B; Heerschap A; Wevers R A...
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency[J] . Jeff Eichhorst,Jane Alcorn,Joyce LePage,Michele Etter,Nick A. Antonishyn,Braden Fitterer,Duane A. Birch,Kristin L. Agopsowicz,L. Ruthnum,Cheryl R. Greenberg,Denis C. Lehotay.Molecular ...
Emory Metabolic Nutrition Symposium Frazier D - 3MCCD Emory Metabolic Nutrition Symposium 3-MCC Deficiency Frazier D - 3MCCDFrazier, Dianne M
Objective: To determine the prevalence of 3 -methylcrotonyl -CoA carboxylase deficiency (MCCD) in neonates in Shijiazhuang City, and to test the mutations of the related genes. Methods:185 683 neonates born in Shijiazhuang City were screened for MCCD by tandem mass spectrome...
MCCC2基因基因变异全外显子组测序目的:对1例临床疑诊3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD )患儿及其父母进行基因变异分析,寻找该家系的致病变异,为临床诊断提供分子遗传学依据.方法:抽提先证者及其父母的外周血基因组DNA,应用全外显子组基因测序技术对疑似为MCCD疾...
3-甲基巴豆酰辅酶A羧化酶缺乏症(3-MCC)的英文名字是3-methylcrotonyl-CoA carboxylase deficiency(3-MCC)。基因解码表明:3-甲基巴豆酰辅酶A羧化酶缺乏症(3-MCC)是一种遗传性代谢疾病,由于3-甲基巴豆酰辅酶A羧化酶的功能缺陷导致。这种酶在氨基酸代谢途径中起着重要作用,帮助将3-甲基巴豆酰辅酶A转化为3-羟基-...