Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

• Published in: Molecular genetics and metabolism reports Vol. 16; pp. 15 - 19
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2018; Elsevier
• Subjects: ETF-QO; ETFDH; Glutaric aciduria II; Multiple acyl-CoA dehydrogenase deficiency; Research Paper; Riboflavin; AST; WES; ETFDH; Riboflavin; CK; ETF-QO; RR-MADD; LDH; ETF; MADD; Multiple acyl-CoA dehydrogenase deficiency; Glutaric aciduria II; GAII; MADD, multiple acyl-CoA dehydrogenase deficiency; LDH, lactate dehydrogenase; CK, creatine kinase; GAII, glutaric aciduria II; WES, whole exome sequencing; RR-MADD, riboflavin-responsive MADD; ETF-QO, ETF-ubiquinone oxidoreductase; ETF, electron transfer flavoprotein; AST, aspartate aminotransferase

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we re...