Annals of Emergency Medicine
Volume 41, Issue 1 , Pages 104-109 , January 2003

Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma

Received 31 January 2002 ,Revised 12 August 2002 ,Accepted 21 August 2002.

References 

  1. Rowe PC, Newman SL, Brusilow SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med. 1986;314:514–517
  2. Finkelstein JE, Hauser ER, Leonard CO, et al.  Late-onset OTC defiency in male patients. J Pediatr. 1990;117:879–902
  3. Yorifuji T, Muroi J, Uematsu A, et al.  X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin Genet. 1998;54:335–349
  4. Maestri NE, Lord C, Glynn M, et al.  The phenotype of ostensibly healthy women who are carriers ornithine transcarbamylase deficiency. Medicine. 1998;77:389–397
  5. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology and therapy. Adv Pediatr. 1996;43:127–170
  6. Legras A, Labarthe F, Maillot F, et al.  Late diagnosis of ornithine transcarbamylase defect in three related patients: polymorphic presentations. Crit Care Med. 2002;30:241–244
  7. Trivedi M, Zafar S, Spalding MJ, et al.  Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. J Clin Gastroenterol. 2001;32:340–343
  8. Perini M, Zarcone D, Corbetta C. Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency. Ital J Neurol Sci. 1993;14:461–464
  9. Kay JD, Hilton-Jones D, Hyman N. Valproate toxicity and and ornithine transcarbamylase deficiency. Lancet. 1986;2:1283–1284
  10. Hauser ER, Finelistein JE, Valle D, et al.  Allopurinol-induced orotidinuria: a test for mutation at the ornithine transcarbamylase locus. N Engl J Med. 1990;322:1641–1645
  11. Chen CY, Chen YC, Fang JT, et al.  Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiency. Ren Fail. 2000;22:823–836
  12. Feillet F, Leonard JV. Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis. 1998;21:101–111
  13. Kendall BE, Kingsgley DPE, Leonard JV, et al.  Neuroradiological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. J Neurol Neurosurg Psychiatry. 1983;46:28–34
  14. Butterworths RF. Effects of hyperammonaemia on brain function. J Inherit Metab Dis. 1998;21:6–20
  15. Bajay SK, Kurlemann G, Schuierer G, et al.  CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report. Neuroradiology. 1996;38:796–799
  16. Hawkes ND, Thomas GA, Jurewicz OM, et al.  Non-hepatic hyperammonaemia: an important, potentially reversible cause of encephalopathy. Postgrad Med J. 2001;77:717–722

☆ Address for reprints: Rita Gaspari, MD, Department of Anaesthesiology and Intensive Care, Catholic University of Rome, L.go F. Vito 1, 00168 Rome, Italy; +39 06 3015 4490-4988, fax +39 06 3013450; E-mail atypga@tin.it

PII: S0196-0644(02)84929-0

doi: 10.1067/mem.2003.6

Annals of Emergency Medicine
Volume 41, Issue 1 , Pages 104-109 , January 2003

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