Fan Xin, Xie Bobo, Zou Jun, Luo Jingsi, Qin Zailong, D'Gama Alissa M, Shi Jiahai, Yi Shang, Yang Qi, Wang Jin, Luo Shiyu, Chen Shaoke, Agrawal Pankaj B, Li Qifei, Shen Yiping
Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
Department of Gastroenterology, The Second Affiliated Hospital, Guangxi Medical University, Nanning 530000, People's Republic of China.
Mol Genet Metab Rep. 2018 Jun 11;16:15-19. doi: 10.1016/j.ymgmr.2018.05.007. eCollection 2018 Sep.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in or . Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD, and may not only prevent patients from invasive testing, but also allow timely initiation of riboflavin treatment. The novel variants in and the corresponding clinical features reported here enrich the allelic heterogeneity of RR-MADD and provide insight into genotype-phenotype relationships.
多种酰基辅酶A脱氢酶缺乏症（MADD）是一种常染色体隐性脂肪酸、氨基酸和胆碱代谢紊乱疾病，由[相关基因]突变引起。许多MADD患者对核黄素治疗有反应，称为核黄素反应性MADD（RR-MADD）。在此，我们报告了4例不同年龄RR-MADD患者中[相关基因]的3个新突变和1个先前报道的突变，并对ETF-QO蛋白结构的相应变化进行了表征。当患者出现肌肉无力和生化异常时，临床医生在鉴别诊断中应考虑MADD。基因检测在确诊MADD中起着关键作用，不仅可以避免患者进行侵入性检测，还能及时开始核黄素治疗。本文报道的[相关基因]新变异及其相应临床特征丰富了RR-MADD的等位基因异质性，并为基因型-表型关系提供了见解。
