M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase ( ETFDH) gene mutations

Abstract

Primary or secondary Coenzyme Q10 (CoQ10) deficiency in muscle has been demonstrated in various phenotypes and response to CoQ10 supplementation has shown benefit in most cases. We have recently identified a group of patients with isolated myopathic form of CoQ10 deficiency and mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. This gene is also responsible from glutaric aciduria type II (GAII), a disorder known for good response to riboflavin treatment. We discuss treatment strategy with CoQ10 and riboflavin in this disorder.