Journal of Inherited Metabolic Disease

, Volume 27, Issue 5, pp 671–678

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

  • R. K. J. Olsen
  • M. Pourfarzam
  • A. A. M. Morris
  • R. C. Dias
  • I. Knudsen
  • B. S. Andresen
  • N. Gregersen
  • S. E. Olpin
Article

DOI: 10.1023/B:BOLI.0000042986.10291.e9

Cite this article as:
Olsen, R.K.J., Pourfarzam, M., Morris, A.A.M. et al. J Inherit Metab Dis (2004) 27: 671. doi:10.1023/B:BOLI.0000042986.10291.e9

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.

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • R. K. J. Olsen
    • 1
  • M. Pourfarzam
    • 2
  • A. A. M. Morris
    • 3
  • R. C. Dias
    • 4
  • I. Knudsen
    • 1
  • B. S. Andresen
    • 1
    • 5
  • N. Gregersen
    • 1
  • S. E. Olpin
    • 6
  1. 1.Research Unit for Molecular MedicineAarhus University Hospital and Faculty of Health SciencesAarhusDenmark
  2. 2.Department of Child HealthRoyal Victoria InfirmaryNewcastle-upon-TyneUK
  3. 3.Research Unit for Molecular Medicine, Skejby SygehusAarhus University HospitalDenmark. E-mail
  4. 4.Paediatric DepartmentNorth Tees General HospitalUK
  5. 5.Institute of Human GeneticsAarhus UniversityDenmark
  6. 6.Chemical Pathology/Neonatal Screening and Metabolic Disease ServiceSheffield Children's HospitalUK

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