Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report

Abstract

Glutaric aciduria type II or multiple acyl-CoA dehydrogenase deficiency (MIM 231680) is an autosomal recessively inherited disorder with heterogeneous clinical manifestation and genetic background

Keywords

• Glutaric aciduria type II
• multiple acyl coenzyme A dehydrogenase deficiency
• proximal myopathy
• riboflavin
• coa dehydrogenation deficiency
• mutations