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。
Forsyth, RaeLynn,Vockley,etc.Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System[J].2016,118(1).Forsyth R, Vockley CW, Edick M J, et al. Outcomes of cases with 3- methylcrotonyl-CoA carboxylase (3-...
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...
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...
Emory Metabolic Nutrition Symposium Frazier D - 3MCCD Emory Metabolic Nutrition Symposium 3-MCC Deficiency Frazier D - 3MCCDFrazier, Dianne M
石家庄地区3-甲基巴豆酰辅酶A羧化酶缺乏症患病率及MCCC1,MCCC2基因变异分析doi:10.12280/gjszjk.20220495Objective: 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....
3-甲基巴豆酰辅酶A羧化酶缺乏症(3MCC)的英文名字是3-methylcrotonyl-CoA carboxylase deficiency(3MCC)。基因解码表明:3-甲基巴豆酰辅酶A羧化酶缺乏症(3MCC)是一种遗传性代谢疾病,由于3-甲基巴豆酰辅酶A羧化酶(3-methylcrotonyl-CoA carboxylase)的功能缺陷引起。这种酶在体内负责将3-甲基巴豆酰辅酶A转化为3-...
3-甲基巴豆酰辅酶A羧化酶缺乏症(3MCC)的英文名字是3-methylcrotonyl-CoA carboxylase deficiency(3MCC)。基因解码表明:佳学基因采用基因解码表明,3-甲基巴豆酰辅酶A羧化酶缺乏症(3MCC)是由基因突变引起的。这种疾病是由于3MCC基因中的突变导致3-甲基巴豆酰辅酶A羧化酶的功能缺陷,进而影响了体内对3-甲基巴豆酰...
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-...