A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

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.

KEYWORDS:

• ETFDH
• MADD
• novel
• mutation

Acknowledgments

The authors would like to thank Dr Yu Shengyuan for critical reading and helpful comments on the manuscript.

Disclosure statement

The authors declare no conflict of interest.

Additional information

Funding

This study was funded by <Youth Fund of Zhengzhou University First Affiliated Hospital> [grant number YNQN2017083], which is a fund within the Zhengzhou University First Affiliated Hospital.

Notes on contributors

Min Chen

Min Chen is an attending doctor of Department of Neurology, the first affiliated hospital of Zhengzhou University.

Jing Peng

Jing Peng is a graduate student at Zhengzhou University.

Wei Wei

Wei Wei is nurse of Department of Neurology, the first affiliated hospital of Zhengzhou University.

Rui Wang

Rui Wang is a graduate student at Zhengzhou University.

Hongliang Xu

Hongliang Xu is an attending doctor of Department of Neurology, the first affiliated hospital of Zhengzhou University.

Hongbo Liu

Hongbo Liu is a professor at Zhengzhou University and a chief physician of Department of Neurology, the first affiliated hospital of Zhengzhou University.