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Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

  • Case Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

A patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presented in the neonatal period with hypoketotic hypoglycaemia and at the age of 1 year with rhabdomyolysis and normal glucose after fasting. Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients.

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References

  • Roe CR, Sweetman L, Roe DS, et al (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110: 259–269.

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  • Vianey-Saban C, Divry P, Brivet M, et al (1998) Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43–62.

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Authors and Affiliations

  1. Metabolic Diseases, Wilhelmina Children's Hospital, Lundlaan 6, Utrecht, 3508AB, The Netherlands

    H. M. Engbers, L. Dorland, M. G. M. De Sain & G. Visser

  2. Meander Hospital, Amersfoort, The Netherlands

    P. F. Eskes

Authors
  1. H. M. Engbers
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  2. L. Dorland
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  3. M. G. M. De Sain
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  4. P. F. Eskes
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  5. G. Visser
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Corresponding author

Correspondence to H. M. Engbers.

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Engbers, H.M., Dorland, L., De Sain, M.G.M. et al. Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting. J Inherit Metab Dis 28, 1151–1152 (2005). https://doi.org/10.1007/s10545-005-0190-y

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  • DOI: https://doi.org/10.1007/s10545-005-0190-y

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