Abstract
Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. We present a unique case of hyperammonemic coma occurring in an OTC mutation carrier during the antepartum period. Multiple factors, including the administration of antenatal corticosteroids, likely precipitated this critical condition. Clinicians should be aware of this life-threatening clinical presentation and be prepared to identify, treat, and prevent hyperammonemia in affected individuals.
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References
Peterson DE . Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. Obstet Gynecol 2003; 102: 1212–1215.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH et al. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005; 21: S1–S8.
Cordero DR, Baker J, Dorinzi D, Toffle R . Ornithine transcarbamylase deficiency in pregnancy. J Inherit Metab Dis 2005; 28 (2): 237–240.
Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, King LS et al. Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin 2005; 21: S9–17.
Gaspari R, Arcangeli A, Mensi S, Wismayer DS, Tartaglione T, Antuzzi D et al. Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma. Ann Emerg Med 2003; 41: 104–109.
Gordon N . Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol 2003; 7: 115–121.
Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L . A novel tow-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonemia in early pregnancy. Hepatology 1996; 24 (6): 1413–1415.
Atiq M, Holt A, Safdar K, Weber F, Ravinuthala R, Jonas M et al. Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. J Clin Gastroenterol 2008; 42: 213–214.
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Lipskind, S., Loanzon, S., Simi, E. et al. Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids. J Perinatol 31, 682–684 (2011). https://doi.org/10.1038/jp.2011.23
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DOI: https://doi.org/10.1038/jp.2011.23
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