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

J Inherit Metab Dis. 2004;27(5):671-8. doi: 10.1023/b:boli.0000042986.10291.e9.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency
  • Acyl-CoA Dehydrogenases / genetics*
  • Adolescent
  • Age of Onset
  • Base Sequence
  • Blotting, Western
  • DNA Mutational Analysis
  • DNA, Complementary / metabolism
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / genetics
  • Electron-Transferring Flavoproteins / genetics*
  • Electron-Transferring Flavoproteins / metabolism
  • Female
  • Fibroblasts / metabolism
  • Heterozygote
  • Humans
  • Iron-Sulfur Proteins / genetics*
  • Lipid Metabolism*
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Models, Genetic
  • Molecular Sequence Data
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Mutation*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Phenotype
  • Respiration, Artificial


  • DNA, Complementary
  • Electron-Transferring Flavoproteins
  • Iron-Sulfur Proteins
  • Acyl-CoA Dehydrogenases
  • Oxidoreductases Acting on CH-NH Group Donors
  • electron-transferring-flavoprotein dehydrogenase
  • Electron Transport Complex I