Format

Send to

Choose Destination
J Inherit Metab Dis. 2004;27(5):671-8.

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

Author information

1
Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus University Hospital, Brendstrupgaardsvej 100, DK-8200 Aarhus N, Denmark. rikke.olsen@mmf.au.dk

Abstract

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.

PMID:
15669683
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center