Multiple acyl-COA dehydrogenase deficiency in elderly carriers

We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers ofETFDH gene mutation. Treatment with riboflavin andl-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.
Source: Journal of Neurology - Category: Neurology Source Type: research