Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

doi:10.1016/j.crwh.2022.e00390

Case Reports

. 2022 Jan 30:34:e00390.

doi: 10.1016/j.crwh.2022.e00390. eCollection 2022 Apr.

Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

Gabriella Pinho¹, Gabriela Ross¹, Kaila Krishnamoorthy¹, Christina Kresge¹, Ling Yu Shih¹, Joseph J Apuzzio¹, Shauna F Williams¹

Affiliations

PMID: 35601507
PMCID: PMC9117120
DOI: 10.1016/j.crwh.2022.e00390

Case Reports

Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

Gabriella Pinho et al. Case Rep Womens Health. 2022.

. 2022 Jan 30:34:e00390.

doi: 10.1016/j.crwh.2022.e00390. eCollection 2022 Apr.

Authors

Gabriella Pinho¹, Gabriela Ross¹, Kaila Krishnamoorthy¹, Christina Kresge¹, Ling Yu Shih¹, Joseph J Apuzzio¹, Shauna F Williams¹

Affiliation

¹ Rutgers New Jersey Medical School, United States.

PMID: 35601507
PMCID: PMC9117120
DOI: 10.1016/j.crwh.2022.e00390

Abstract

Background: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition.

Cases: We present the pregnancy management and outcomes of two women with OTCD. The particular manifestations of the disease drive antenatal, intrapartum and postpartum management.

Conclusion: Preconception counseling, early prenatal diagnostics and multidisciplinary intrapartum and postpartum management plans contribute to improved outcomes for patients.

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References

1. Ituk U., Constantinescu O.C., Allen T.K., Small M.J., Habib A.S. Peripartum management of two parturients with ornithine transcarbamylase deficiency. Int. J. Obstet. Anesth. 2012;21(1):90–93. doi: 10.1016/j.ijoa.2011.09.007. - DOI - PubMed
1. Lamb S., Aye C.Y., Murphy E., Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to preven hyperammonemic complications. Case Rep. 2013;2013(jan02) doi: 10.1136/bcr-2012-007416. - DOI - PMC - PubMed
1. Torkzaban M., Haddad A., Baxter J.K., Berghella V., Gahl W.A., Al-Kouatly H.B. Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: a systematic review. Am. J. Med. Genet. A. 2019;179(10):2091–2100. doi: 10.1002/ajmg.a.61329. - DOI - PubMed
1. Mendez-Figueroa H., Lamance K., Sutton V., Van Den Veyver I. 823: management of ornithine transcarbamylase deficiency in pregnancy. Am. J. Obstet. Gynecol. 2009;201(6) doi: 10.1016/j.ajog.2009.10.840. - DOI - PubMed
1. Nakajima H., Sasaki Y., Maeda T., et. Al. Antepartum ornithine transcarbamylase deficiency. Case Rep. Gastroenterol. 2014;8(3):337–345. doi: 10.1159/000369131. - DOI - PMC - PubMed

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[1] Ituk U., Constantinescu O.C., Allen T.K., Small M.J., Habib A.S. Peripartum management of two parturients with ornithine transcarbamylase deficiency. Int. J. Obstet. Anesth. 2012;21(1):90–93. doi: 10.1016/j.ijoa.2011.09.007. - DOI - PubMed

[2] Ituk U., Constantinescu O.C., Allen T.K., Small M.J., Habib A.S. Peripartum management of two parturients with ornithine transcarbamylase deficiency. Int. J. Obstet. Anesth. 2012;21(1):90–93. doi: 10.1016/j.ijoa.2011.09.007. - DOI - PubMed

[3] Lamb S., Aye C.Y., Murphy E., Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to preven hyperammonemic complications. Case Rep. 2013;2013(jan02) doi: 10.1136/bcr-2012-007416. - DOI - PMC - PubMed

[4] Lamb S., Aye C.Y., Murphy E., Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to preven hyperammonemic complications. Case Rep. 2013;2013(jan02) doi: 10.1136/bcr-2012-007416. - DOI - PMC - PubMed

[5] Torkzaban M., Haddad A., Baxter J.K., Berghella V., Gahl W.A., Al-Kouatly H.B. Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: a systematic review. Am. J. Med. Genet. A. 2019;179(10):2091–2100. doi: 10.1002/ajmg.a.61329. - DOI - PubMed

[6] Torkzaban M., Haddad A., Baxter J.K., Berghella V., Gahl W.A., Al-Kouatly H.B. Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: a systematic review. Am. J. Med. Genet. A. 2019;179(10):2091–2100. doi: 10.1002/ajmg.a.61329. - DOI - PubMed

[7] Mendez-Figueroa H., Lamance K., Sutton V., Van Den Veyver I. 823: management of ornithine transcarbamylase deficiency in pregnancy. Am. J. Obstet. Gynecol. 2009;201(6) doi: 10.1016/j.ajog.2009.10.840. - DOI - PubMed

[8] Mendez-Figueroa H., Lamance K., Sutton V., Van Den Veyver I. 823: management of ornithine transcarbamylase deficiency in pregnancy. Am. J. Obstet. Gynecol. 2009;201(6) doi: 10.1016/j.ajog.2009.10.840. - DOI - PubMed

[9] Nakajima H., Sasaki Y., Maeda T., et. Al. Antepartum ornithine transcarbamylase deficiency. Case Rep. Gastroenterol. 2014;8(3):337–345. doi: 10.1159/000369131. - DOI - PMC - PubMed

[10] Nakajima H., Sasaki Y., Maeda T., et. Al. Antepartum ornithine transcarbamylase deficiency. Case Rep. Gastroenterol. 2014;8(3):337–345. doi: 10.1159/000369131. - DOI - PMC - PubMed

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Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

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Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

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