A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (4th March 2018)

• Record Type: Journal Article
• Authors: Chen, Min; Peng, Jing; Wei, Wei; Wang, Rui; Xu, Hongliang; Liu, Hongbo
• Is Part Of: International journal of neuroscience. Volume 128:Number 3(2018)
• Page Start: 291
• Page End: 294
• Publication Date: 2018-03-04
• Subjects: ETFDH -- MADD -- novel -- mutation; Nervous system -- Periodicals; 612.805
• DOI: 10.1080/00207454.2017.1380641
• Languages: English
• ISSNs: 0020-7454

Abstract

ABSTRACT: Aim of the study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Materials and methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed. Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. Conclusion: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.