Abstract
The urea cycle converts ammonia and produces urea. One form of urea cycle abnormality is ornithine transcarbamylase (OTC) deficiency. This hereditary disorder is associated with hyperammonemia. OTC deficiency commonly appears during neonatal and early childhood life and is rare in adults. We report a 69-year-old man who presented at the local hospital with 3-day loss of appetite, early morning vomiting, and state of confusion. Blood ammonia was 293 μg/dl. At 2–3 h after admission, the patient went into a deep coma. He was intubated and admitted immediately to the intensive care unit. Treatment, including sustained hemodialysis, failed to lower blood ammonia level. His grandchild died of OTC deficiency at 6 year of age. Computed tomography, magnetic resonance imaging and esophagogastroduodenoscopy showed no abnormalities. On admission to our hospital, he complained of vomiting and disturbance of consciousness, hyperammonemia, and normal anion gap. Genetic analysis showed A208T mutation. The deceased grandchild with OTC deficiency also had the same mutation. Long-term hemodialysis coupled with administration of l-arginine and lactulose resulted in improvement of blood ammonia level. Early diagnosis and treatment of adult-onset OTC deficiency are essential to avoid serious complications.
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References
Kido J, Nakamura K, Mitsubuchi H, et al. Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis. 2012;35:777–85.
Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine transcarbamylase deficiency. In: Gene reviews (R). Seattle: University of Washington; 1993.
Maestri NE, Brusilow SW, Clissold DB, et al. Long-term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med. 1996;335:855–9.
Matsuda I, Matsuura T, Nishiyori A, et al. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. J Med Genet. 1996;33:645–8.
Nishiyori A, Yoshino M, Tananari Y, et al. Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. Hum Mutat. 1998;(Suppl 1):S131–3.
Klein OD, Kostiner DR, Weisiger K, et al. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008;2:390–4.
Bijvoet GP, van der Sijs-Bos CJ, Wielders JP, et al. Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency. Neth J Med. 2016;74:36–9.
Ausems MG, Bakker E, Berger R, et al. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family. Am J Med Genet. 1997;68:236–9.
Yamaguchi S, Brailey LL, Morizono H, et al. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat. 2006;27:626–32.
Morioka D, Kasahara M, Takada Y, et al. Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. Liver Transplant. 2005;11:1332–42.
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Daijo, K., Kawaoka, T., Nakahara, T. et al. Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia. Clin J Gastroenterol 10, 383–387 (2017). https://doi.org/10.1007/s12328-017-0753-0
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DOI: https://doi.org/10.1007/s12328-017-0753-0