Ibrahim, Majitha Seyed;
Gold, Jessica I;
Woodall, Alison;
Yilmaz, Berna Seker;
Gissen, Paul;
Stepien, Karolina M;
(2023)
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
Children
, 10
(8)
, Article 1368. 10.3390/children10081368.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/children10081368 |
| Publisher version: | https://doi.org/10.3390/children10081368 |
| Language: | English |
| Additional information: | © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
| Keywords: | late-onset OTC deficiency; urea cycle disorders; clinical manifestations; adults |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10175373 |
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