Ornithine transcarbamylase deficiency is an X-linked disorder of the urea cycle that can cause hyperammonemic encephalopathy in hemizygous males and heterozygous females. Affected females typically limit protein intake in their diet. This case report describes a 36-year-old woman with ulcerative colitis who went into hyperammonemic coma after administration of total parenteral nutrition. A similar episode of coma had occurred 7 years earlier after she delivered a normal boy. Heterozygous ornithine transcarbamylase deficiency was diagnosed based on a positive allopurinol tolerance test result after elevated levels of plasma glutamine and low plasma citrulline were detected. The protein load associated with parenteral alimentation resulted in symptomatic expression of this partial enzyme deficiency in this unique case. Partial ornithine transcarbamylase deficiency must always be considered in adult women and men with hyperammonemia who have normal liver function test results.
Click here for entire article in PDF.
- Lee-Jin, CW, Craigen, WJ, O’Brien, WE. Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med. 1994;120:216–217.
- Segal, S, Roth, KS. Inborn errors of metabolism: a new purview of internal medicine. Ann Intern Med.1994;120:245–246.
- Short, EM, Conn, HO, Snodgrass, PJ, Campbell, AGM, Rosenberg, LE. Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency. N Engl J Med. 1973;288:7–12.
- Campbell, AGM, Rosenberg, LE, Snodgrass, PJ, Nuzum, CT. Ornithine transcarbamylase deficiency—a cause of lethal neonatal hyperammonemia in males. N Engl J Med. 1973;288:1–6.
- DiMagno, EP, Lowe, JE, Snodgrass, PJ, Jones, JD. Ornithine transcarbamylase deficiency—a cause of bizarre behavior in a man. N Engl J Med. 1986;315:744–747.
- Finkelstein, JE, Hauser, ER, Leonard, CO, Brusilow, SW. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990;117:897–902.
- Rowe, PC, Newman, SL, Brusilow, SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med. 1986;314:541–547.
- Arn, PA, Hauser, ER, Thomas, GH, Herman, G, Hess, D, Brusilow, SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus—a cause of postpartum coma. N Engl J Med.1990;322:1652–1655.
- Hauser, ER, Finkelstein, JE, Valle, D, Brusilow, SW. Allopurinol-induced orotidinuria: a test for mutation at the ornithine carbamoyl-transferase locus in women. N Engl J Med. 1990;322:1641–1645.
- Batshaw, ML, Msall, M, Beaudet, AL, Trojak, J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr. 1986;108:236–241.
- Hokanson, JT, O’Brien, WE, Idemoto, J, Schafer, IA. Carrier detection in ornithine transcarbamylase deficiency. J Pediatr. 1978;93:75–78.
- Haan, EA, Danks, DM, Grimes, A, Hoogenraad, NJ. Carrier detection in ornithine transcarbamylase deficiency. J Inher Metab Dis. 1982;5:37–40.
- Goldstein, AS, Hoogenraad, NJ, Johnson, JD, Fukanaga, K, Swierczewski, E, Cann, HM, Sunshine, P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency. Pediatr Res. 1974;8:5–12.
- Becroft, MO, Barry, MJ, Webster, R, Simmonds, HA. Failure of protein loading tests to identify heterozygosity for ornithine transcarbamylase deficiency. J Inher Metab Dis. 1984;7:157–159.
- Ghadimi, H, Abaci, F, Kumar, S, Rathi, M. Biochemical aspects of intravenous alimentation. Pediatrics.1971;48:955–965.
- Seashore, JH, Seashore, MR, Reily, C. Hyperammonemia during total parenteral nutrition in children. JPEN.1982;6:114–118.
- Grazer, RE, Sutton, JM, Friedstrom, S, McBarron, FD. Hyperammonemic encephalopathy due to essential amino acid hyperalimentation. Arch Intern Med. 1984;114:2278–2279.
- Nakasaki, H, Katayama, T, Yokoyama, S, Tajima, T, Mitomi, T, Tsuda, M, Suga, T, Fujii, K. Complications of parenteral nutrition composed of essential amino acids and histidine in adults with renal failure. JPEN.1993;17:86–90.
- Brusilow, SW, Horwich, AL. Urea cycle enzymes. in: CR Scriver, AL Beuadet, WS Aly, D Valle (Eds.) The metabolic basis of inherited disease. 6th ed. McGraw Hill, New York; 1989:629–662.
- Fox, J, Hack, AM, Fenton, WA, Golbus, MS, Winter, S, Kalousek, F, Rosen, R, Brusilow, SW, Rosenberg, LE. Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. N Engl J Med.1986;315:1205–1208.
David M. Felig, Saul W. Brusilow, James L. Boyer
Published in issue: Gastroenterology, Volume 109, Issue 1, Pages 282–284, July 1995