2-甲基丁酰辅酶A脱氢酶缺乏症的英文名字是2-methylbutyryl-CoA dehydrogenase deficiency。基因解码表明:佳学基因采用基因解码表明,2-甲基丁酰辅酶A脱氢酶缺乏症是由基因突变引起的。这种疾病是由ACADSB基因的突变引起的,该基因编码2-甲基丁酰辅酶A脱氢酶。这种酶在分解脂肪酸的代谢过程中起着重要作用。基因突变会导致...
3-甲基戊烯二酸尿症2型(2-Methylbutyryl-CoA dehydrogenase deficiency,2-MBCDD)是一种罕见的代谢性疾病,属于脂肪酸代谢障碍症之一。该病的发病率较低,但一旦患上该病,病情却相当严重,甚至可能危及患者的生命。因此,对于有遗传病史的家庭或计划生育的夫妇来说,进行基因检测是非常必要的。那么,如何进行3-甲基戊烯...
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000;47:830-3.Gibson KM, Burlingame G, Hogema B, Jakobs C, Schutgens RBH, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D...
2-甲基丁酰辅酶A脱氢酶缺乏症的英文名字是2-methylbutyryl-CoA dehydrogenase deficiency。基因解码表明:2-甲基丁酰辅酶A脱氢酶缺乏症是一种遗传性代谢疾病,与基因突变密切相关。 2-甲基丁酰辅酶A脱氢酶缺乏症是由于ACADSB基因的突变引起的。ACADSB基因位于人类染色体10q26.13区域,编码2-甲基丁酰辅酶A脱氢酶。这个酶...
2-甲基丁酰辅酶A脱氢酶缺乏症(2-Methylbutyryl-CoA Dehydrogenase Deficiency,简称MCADD)是一种常见的遗传代谢病,主要是由于2-甲基丁酰辅酶A脱氢酶基因突变导致的。为了及早发现和治疗MCADD,基因检测是一种重要的手段。国内的严选好基因网提供专业的基因检测服务,以下是2-甲基丁酰辅酶A脱氢酶缺乏症基因检测的整个流程...
2-甲基丁酰辅酶A脱氢酶缺乏症(2-Methylbutyryl-CoA dehydrogenase deficiency,简称MCADD)是一种遗传代谢疾病,属于脂肪酸氧化障碍范畴。该病由于2-甲基丁酰辅酶A脱氢酶的缺乏或活性降低,导致体内某些特定脂肪酸不能正常氧化,从而引发一系列临床症状。MCADD是一种常染色体隐性遗传病,若不进行治疗,可能会严重影响患者的...
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease JUDIT GARC´IA-VILLORIA, ROB OFMAN, PEDRO RUIZ SALA, BEGON˜ A MERINERO, JULIO RAMOS, MARIA TERESA GARC´IA-SILVA, BEATRIZ BESELER, ...
Identification of Acyl-CoA Dehydrogenase Deficiency Organic acid analysis of the patient’s urine consistently demonstrated the presence of 2-methylbutyryl-glycine, suggesting an ACAD defect in the isoleucine pathway. To evaluate this possibility, we set up an assay to determine the ACAD activity towar...
2-Methyl-4-Chlorophenoxyacetic Acid 2-Methyl-6- 2-methyl-propan-1-ol 2-methyl-propanoic acid 2-methylacetoacetyl-CoA thiolase 2-methylbutanal 2-methylbutane 2-methylbutyraldehyde 2-methylbutyryl glycinuria 2-Methylbutyryl-CoA dehydrogenase deficiency 2-methylfuran 2-Methylhexane 2-methylpentanoic ac...
Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of I... Acyl-CoA dehydrogenase (ACAD) defects in isoleucine and valine catabolism have been proposed in clinically diverse patients with an abnormal pa...