Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 1133–1135 | Cite as

Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman

  • S. Vinzio
  • A. E. Perrin
  • E. Forestier
  • J. L. Schlienger
  • B. Goichot
Case Report

Summary

This case report describes a 31-year-old woman with a neglected ornithine carbamoyltransferase deficiency, admitted for a hyperammonaemic encephalopathy induced by a commercial very low-energy diet. To our knowledge, this is the first reported case and it underlines the potential risk of such a diet in patients with undiagnosed or neglected ornithine carbamoyltransferase deficiency.

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References

  1. Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med 322: 1652–1655.Google Scholar
  2. Batshaw ML, Msall M, Beaudet AL, Trojak J (1986) Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 108: 236–241.PubMedGoogle Scholar
  3. Bogdanovic MD, Kidd D, Briddon A, Duncan JS, Land JM (2000) Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J Neurol Neurosurg Psychiatry 69: 813–815.CrossRefPubMedGoogle Scholar
  4. Felig DM, Brusilow SW, Boyer JL (1995) Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 109: 282–284.CrossRefPubMedGoogle Scholar
  5. Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine 77: 389–397.CrossRefPubMedGoogle Scholar
  6. Mustajoki P, Pekkarinen T (2001) Very low energy diets in the treatment of obesity. Obes Rev 2: 61–72.CrossRefPubMedGoogle Scholar
  7. Perpoint T, Argaud L, Blanc Q, Robert D (2001) Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman. Intensive Care Med 27: 1962.CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • S. Vinzio
    • 1
    • 2
  • A. E. Perrin
    • 1
  • E. Forestier
    • 1
  • J. L. Schlienger
    • 1
  • B. Goichot
    • 1
  1. 1.Department of Internal Medicine and Nutrition, Hôpital de HautepierreUniversité Louis Pasteur de StrasbourgStrasbourgFrance
  2. 2.Service de Médecine interne et de NutritionHôpital de HautepierreStrasbourg CedexFrance

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