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...
<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...
Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations inACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient...
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 ...
Isobutyryl-CoA dehydrogenase deficiency (IBDD)ACAD8KMT2AGenotypePhenotypePrognosisThe concentration of C4-acylcarnitine in NBS plus subsequent genetic testing is necessary for IBDD diagnosis. Both the genotypes and ACAD8 variants in IBDD are highly heterogeneous, and no significant correlations between ...
The electrons on reduced flavin are transferred to another flavoprotein, electron-transferring flavoprotein (ETF), which then transfers the reducing equivalents to membrane-bound ETF dehydrogenase, which reduces ubiquinone, a substrate of the respiratory chain.215 Most ACADs are dimers of dimers, with ...