Journal of Inherited Metabolic Disease

, Volume 10, Issue 3, pp 271–271 | Cite as

Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy

  • T. Coskun
  • I. Özalp
  • S. Mönch
  • J. Kneer
Case Report

Keywords

Public Health Internal Medicine Metabolic Disease Encephalitis Brain Stem 

References

  1. Aylsworth, A. S., Swisher, C. N. and Kirkman, H. N. Lethal hyperammonemia due to partial ornithine transcarbamylase deficiency in a 6-year-old male.Am. J. Hum. Genet. 27 (1975) 15AGoogle Scholar
  2. Batshaw, M. L., Msall, M., Beaudet, A. L. and Trojak, J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.J. Pediatr. 108 (1986) 236–241Google Scholar
  3. Oizumi, J., Ng, W. G., Koch, R., Shaw, K. N. F., Sweetman, L., Velazqouez, A. and Donnell, G. N. Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.Clin. Genet. 25 (1984) 538–542Google Scholar

Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • T. Coskun
    • 1
  • I. Özalp
    • 1
  • S. Mönch
    • 2
  • J. Kneer
    • 2
  1. 1.Institute of Child HealthHacettepe UniversityAnkaraTurkey
  2. 2.Department of PaediatricsFree University of BerlinBerlinWest Germany

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