{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T15:43:00Z","timestamp":1783179780443,"version":"3.54.6"},"reference-count":57,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T00:00:00Z","timestamp":1702080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An increasing number of women with urea cycle disorders (UCDs) are reaching child\u2010bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia\u2014which can occur in any trimester, and\/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately. There are also (theoretical) concerns that a maternal UCD, or its treatment, may cause potential risks for the unborn child. Currently evidence on management and outcome of pregnancies in UCDs is limited to case reports and there are no clear guidelines. In order to inform management and investigate outcomes of pregnancies in women with a UCD, we performed a retrospective review of published cases and analyzed data collected from an international online survey. We conclude that, although risk during the intra\u2010 and postpartum period exists, multidisciplinary management by an experienced team and a prospective plan usually result in successful pregnancy, labor, delivery, and postpartum period. No deaths were reported in mothers managed accordingly. With the exception of male neonates with Ornithine Transcarbamylase deficiency, the clinical outcome of children born to mothers with UCDs appears positive, although follow\u2010up is limited. The outcome for women presenting with a first acute metabolic decompensation during pregnancy or postpartum is less favorable. Deaths were associated with diagnostic delay\/late management of hyperammonemia in previously undiagnosed women.<\/jats:p>","DOI":"10.1002\/jimd.12695","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T08:25:01Z","timestamp":1702110301000},"page":"1239-1259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0148-6332","authenticated-orcid":false,"given":"Karolina M.","family":"Stepien","sequence":"first","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Royal Hospital Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke G.","family":"Langendonk","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Disease, Department of Internal Medicine Erasmus MC, Erasmus University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Dao","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic MaMEA, H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel Costa","family":"Gomes","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universit\u00e1rio Lisboa Norte  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Douillard","sequence":"additional","affiliation":[{"name":"Service d'endocrinologie et des Maladies M\u00e9taboliques, Reference Center for Inherited Metabolic, Centre Hospitalier Universitaire de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Filipsson","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Skane University Hospital  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Starship Children's Hospital  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorien A.","family":"Haverkamp","sequence":"additional","affiliation":[{"name":"Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[{"name":"Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lehman","sequence":"additional","affiliation":[{"name":"Adult Metabolic Diseases Clinic, Vancouver General Hospital University of British Columbia  Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic MaMEA, H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Oscarson","sequence":"additional","affiliation":[{"name":"Center of Inherited Metabolic Diseases, Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Chantal","family":"Peltenburg","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Disease, Department of Internal Medicine Erasmus MC, Erasmus University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danijela Petkovi\u0107","family":"Ramad\u017ea","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Centre Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"Metabolic Medicine, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Reismann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Oncology Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alboren","family":"Shtylla","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Heidelberg University Hospital  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Tchan","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Westmead Hospital  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong Yew","family":"Tan","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Disorder and Lysosomal Disorders Unit Addenbrooke's Hospital  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Callum","family":"Wilson","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Starship Children's Hospital  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Woodall","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Royal Hospital Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet A. 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