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Journal of Inherited Metabolic Disease

, Volume 30, Issue 1, pp 104–104 | Cite as

Late presentation of medium-chain acyl-CoA dehydrogenase deficiency

  • S. J. Mayell
  • L. Edwards
  • F. E. Reynolds
  • A. B. ChakrapaniEmail author
Short Report

Summary

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the commonest disorder of fatty acid metabolism, with a high incidence of morbidity and mortality at presentation. We report a 16 year old girl with first presentation of MCAD deficiency following an alcoholic binge and subsequent period of starvation. Presentation was as acute encephalopathy progressing to coma. Renal, cardiac and hepatic failures were managed with intensive supportive care including mechanical ventilation, inotropic support, blood products and renal replacement therapy. Diagnosis of MCAD deficiency was confirmed on day 6. The patient was discharged from hospital on day 20 with a mild proximal myopathy, which subsequently resolved. The diagnosis of MCAD deficiency requires a high index of suspicion at all ages. Precipitating factors in later life may include alcohol.

Keywords

Renal Replacement Therapy Carnitine Inotropic Support Palmitoyl Late Presentation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

10545_2006_ESM_488.pdf (180 kb)
Late presentation of medium-chain acyl-CoA dehydrogenase deficiency

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • S. J. Mayell
    • 1
  • L. Edwards
    • 1
  • F. E. Reynolds
    • 1
  • A. B. Chakrapani
    • 1
    Email author
  1. 1.Department of Clinical Inherited Metabolic DisordersBirmingham Children’s HospitalBirminghamUK

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