Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Publisher Website
Google Scholar
Abstract
Summary: We report a patient with lipid‐storage myopathy due to multiple acyl‐CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long‐term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.