Isobutyryl-coenzyme_A_dehydrogenase_deficiencyIsobutyrylcoenzyme A dehydrogenase deficiencyInborn Errors of Metabolism
异丁酰辅酶A脱氢酶缺乏(Deficiency of isobutyryl-CoA dehydrogenase)基因检测致病基因基因鉴定 异丁酰辅酶A脱氢酶缺乏是一种罕见的遗传性疾病,通常由IBD基因的突变引起。进行基因检测可以帮助确定患者是否携带IBD基因的突变,从而确认诊断和制定治疗方案。 基因检测通常通过提取患者的DNA样本,然后对IBD基因进行测序分析,以确...
These same precursors were also evaluated in fibroblasts with proven ETF-QO deficiency in which acyl-CoA dehydrogenase deficiencies in each of these pathways was clearly identified. These results indicate that in the human, there is an isobutyryl-CoA dehydrogenase which exists as a separate enzyme ...
97.1.9 Isobutyryl-CoA Dehydrogenase Deficiency Of the three mitochondrial dehydrogenases involved in the third step of leucine, isoleucine, and valine metabolism, isobutyryl-CoA dehydrogenase (IBDH) in the valine pathway was the last to be definitively identified (Figure 97-2) (46). As with defic...
N-Isobutyrylglycine detection is also used in the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Definition ChEBI: An N-acylglycine in which the acyl group is specified as isobutryl. 9. Toltal 6 Suppliers View more Wuhan H.X.K Fine Chemicals Co.,LTD Tel: Update Time:2018/09/28...
Isobutyryl-L-carnitine is a natural 4-carbon acylcarnitine that is involved in fatty acid oxidation and organic acid metabolism.1Elevated levels of isobutyryl-L-carnitine are associated with isobutyryl-CoA dehydrogenase deficiency.2,3 1.Turer, A.T., Stevens, R.D., Bain, J.R., et al.Metabol...
1 Elevated levels of isobutyryl-L-carnitine are associated with isobutyryl-CoA dehydrogenase deficiency.2,3 1.Turer, A.T., Stevens, R.D., Bain, J.R., et al.Metabolomic profiling reveals distinct patterns of myocardial substrate use in humans with coronary artery disease or left ventricular ...
Systematic analysis of 364 detectable metabolites from WT and p300 KO HCT116 cells revealed that p300 deficiency resulted in alterations in a number of central metabolic pathways, including glycolysis, the pentose phosphate pathway (PPP), the tricarboxylic acid (TCA) cycle, and glutamine metabolism, ...
<P>中文名称: Isobutyryl-CoA脱氢酶缺乏症</P><P>英文名称:Isobutyryl-Coa Dehydrogenase Deficiency </P><P>OMIM号: 611283 </P><P>所属系统:内分泌和代谢系统</P><P>遗传方式:AR</P><DIV class=hdwiki_tmml>疾病简介</DIV><P>患病者体内无法适当地代谢某些蛋白质。此酶的缺乏使缬氨酸代谢发生...
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8. The correct sentence should read: "Another special IBDD patient, with a severe lack of speech development and lack of social interactions, was ...