{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T12:21:21Z","timestamp":1777638081322,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO VFN 64165"],"award-info":[{"award-number":["RVO VFN 64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life\u2010threatening hyperammonemia. Liver transplantation (LT) provides a cure and offers an alternative to medical treatment and life\u2010long dietary restrictions with permanent impending risk of hyperammonemia. Nevertheless, in most patients, metabolic aberrations persist after LT, especially low plasma citrulline levels, with questionable clinical impact. So far, little is known about these alterations and there is no consensus, whether <jats:sc>l<\/jats:sc>\u2010citrulline substitution after LT improves patients' symptoms and outcomes. In this multicentre, retrospective, observational study of 24 patients who underwent LT for CPS1 (<jats:italic>n<\/jats:italic>\u2009=\u200911) or OTC (<jats:italic>n<\/jats:italic>\u2009=\u200913) deficiency, 25% did not receive <jats:sc>l<\/jats:sc>\u2010citrulline or arginine substitution. Correlation analysis revealed no correlation between substitution dosage and citrulline levels (CPS1, <jats:italic>p<\/jats:italic>\u2009=\u20090.8 and OTC, <jats:italic>p<\/jats:italic>\u2009=\u20091). Arginine levels after liver transplantation were normal after LT independent of citrulline substitution. Native liver survival had no impact on mental impairment (<jats:italic>p<\/jats:italic>\u2009=\u20090.67). Regression analysis showed no correlation between <jats:sc>l<\/jats:sc>\u2010citrulline substitution and failure to thrive (<jats:italic>p<\/jats:italic>\u2009=\u20090.611) or neurological outcome (<jats:italic>p<\/jats:italic>\u2009=\u20090.701). Peak ammonia had a significant effect on mental impairment (<jats:italic>p<\/jats:italic>\u2009=\u20090.017). Peak plasma ammonia levels correlate with mental impairment after LT in CPS1 and OTC deficiency. Growth and intellectual impairment after LT are not significantly associated with <jats:sc>l<\/jats:sc>\u2010citrulline substitution.<\/jats:p>","DOI":"10.1002\/jimd.12717","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T08:50:05Z","timestamp":1708419005000},"page":"220-229","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6787-4939","authenticated-orcid":false,"given":"Denise","family":"Aldrian","sequence":"first","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck 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Pediatrics University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerard","family":"Vockley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval E.","family":"Landau","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuad","family":"Al Mutairi","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City MNG\u2010HA  Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard\u2010Health Affairs  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina M.","family":"Stepien","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust  Salford Greater Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Mei\u2010Kwun","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Kowloon Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y\u0131lmaz","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine Hacettepe University  Ankara 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Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Departments of Clinical Genetics and Pediatrics Center for Inherited Metabolic Diseases, Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"},{"name":"Division of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah C.","family":"Gr\u00fcnert","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics, Adolescent Medicine and Neonatology Medical Centre\u2014University of Freiburg, Faculty of 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