Abstract
The clinical course and management of a boy with severe ornithine transcarbamylase deficiency are described. In addition to treatment with sodium benzoate and amino acid keto analogues, mannitol may be useful in hyperammonaemia and nocturnal gavage feeding aids maintenance treatment.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Batshaw M. L., Brusilow S., Waber L., Blom W., Brubakk A. M., Burton B. K., Cann H. M., Kerr D., Mamunes P., Matalon R. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med. 1982 Jun 10;306(23):1387–1392. doi: 10.1056/NEJM198206103062303. [DOI] [PubMed] [Google Scholar]
- Batshaw M. L., Roan Y., Jung A. L., Rosenberg L. A., Brusilow S. W. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med. 1980 Feb 28;302(9):482–485. doi: 10.1056/NEJM198002283020902. [DOI] [PubMed] [Google Scholar]
- Briand P., Francois B., Rabier D., Cathelineau L. Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification. Biochim Biophys Acta. 1982 May 21;704(1):100–106. doi: 10.1016/0167-4838(82)90136-4. [DOI] [PubMed] [Google Scholar]
- McReynolds J. W., Mantagos S., Brusilow S., Rosenberg L. E. Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids. J Pediatr. 1978 Sep;93(3):421–427. doi: 10.1016/s0022-3476(78)81149-4. [DOI] [PubMed] [Google Scholar]