Journal of Inherited Metabolic Disease

, Volume 10, Supplement 2, pp 299–301 | Cite as

Late-onset ornithine carbamyl transferase deficiency in a male patient: Detailed enzyme studies

  • A. K. Holmes
  • B. Fowler
  • I. B. Sardharwalla
Short Communication

Keywords

Public Health Internal Medicine Metabolic Disease Male Patient Ornithine 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Briand, P., Francois, B., Rabier, D. and Cathelineau, L. Ornithine transcarbamylase deficiencies in human males.Biochim. Biophys. Acta 704 (1982) 100–106PubMedGoogle Scholar
  2. Campbell, A. G. M., Rosenberg, L. E., Snodgrass, P. J. and Nuzum, C. T. Ornithine transcarbamylase deficiency. A cause of lethal neonatal hyperammonemia in males.N. Engl. J. Med. 288 (1973) 1–6PubMedGoogle Scholar
  3. Nuzum, C. T. and Snodgrass, P. J. Multiple assays of the five urea cycle enzymes in human liver homogenates. In Grisolia, S. (ed.),The Urea Cycle, John Wiley, New York, 1976, pp. 325–349Google Scholar
  4. Pierson, D. L., Cox, S. L. and Gilbert, B. E. Human ornithine transcarbamylase.J. Biol. Chem. 252 (1977) 6464–6469PubMedGoogle Scholar
  5. Walser, M. Urea cycle disorders and other hereditary hyperammonemic syndromes. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 402–438Google Scholar

Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • A. K. Holmes
    • 1
  • B. Fowler
    • 1
  • I. B. Sardharwalla
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Children's HospitalPendleburyUK

Personalised recommendations