Ornithine Transcarbamylase Deficiency
- 13 February 1975
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 292 (7), 351-352
- https://doi.org/10.1056/nejm197502132920708
Abstract
ORNITHINE transcarbamylase (OTC), the second enzyme in the Krebs—Henseleit urea cycle, catalyzes the formation of citrulline from ornithine and carbamyl phosphate in hepatic mitochondria. Inherited, virtually complete deficiency of OTC causes lethal neonatal hyperammonemia in affected male infants.1 , 2 Orotic aciduria is also observed in these patients, presumably because carbamyl phosphate accumulates behind the block, enters the cytoplasm, and serves as a substrate for pyrimidine biosynthesis.2 , 3 All previous attempted therapeutic measures, including oral antibiotics, enemas, lactulose, peritoneal dialysis, and exchange transfusion, have been unsuccessful in altering the uniformally fatal outcome in these newborn male infants.1 , 2 We report here an unsuccessful attempt . . .Keywords
This publication has 6 references indexed in Scilit:
- Studies on the availability of intramitochondrial carbamoylphosphate for utilization in extramitochondrial reactions in rat liverArchives of Biochemistry and Biophysics, 1974
- The Use of Amino Acid Precursors in Nitrogen-Accumulation DiseasesNew England Journal of Medicine, 1974
- Ornitbine transcarbamylase deficiency in the newborn infantThe Journal of Pediatrics, 1973
- Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1973
- Ammonia Intoxication in Rats: Protection by N -Carbamoyl-L-Glutamate Plus L-ArginineProceedings of the National Academy of Sciences, 1972
- An Ammonia Detoxicant, Arginine GlutamatePublished by American Medical Association (AMA) ,1964