{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T14:08:02Z","timestamp":1793196482001,"version":"4.5.0"},"reference-count":88,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and death. Patients with late-onset OTCD can develop symptoms from infancy to later childhood, adolescence or adulthood. Clinical manifestations of adults with OTCD vary in acuity. Clinical symptoms can be aggravated by metabolic stressors or the presence of a catabolic state, or due to increased demands upon the urea. A prompt diagnosis and relevant biochemical and genetic investigations allow the rapid introduction of the right treatment and prevent long-term complications and mortality. This narrative review outlines challenges in diagnosing and managing patients with late-onset OTCD.<\/jats:p>","DOI":"10.3390\/children10081368","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T10:08:59Z","timestamp":1691575739000},"page":"1368","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency"],"prefix":"10.3390","volume":"10","author":[{"given":"Majitha","family":"Ibrahim","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, Teaching Hospital Batticaloa, Batticaloa 30000, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Gold","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"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 M6 8HD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0425-0341","authenticated-orcid":false,"given":"Berna","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9712-6122","authenticated-orcid":false,"given":"Paul","family":"Gissen","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK"},{"name":"Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK"},{"name":"National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0148-6332","authenticated-orcid":false,"given":"Karolina","family":"Stepien","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK"},{"name":"Division of Cardiovascular Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.4274\/jpr.52724","article-title":"Urea Cycle Disorders in Neonates: Six Case Reports","volume":"4","author":"Terek","year":"2017","journal-title":"J. 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