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Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report
INTRODUCTION: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination. Urea cycle disorders are typically diagnosed on neonatal screening but rarely can lie dormant until a metabolic stressor causes initial onset...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983343/ https://www.ncbi.nlm.nih.gov/pubmed/36859323 http://dx.doi.org/10.5811/cpcem.2022.10.57277 |
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author | Borsuk, Michael Saab, Mathew Tobin, Michael |
author_facet | Borsuk, Michael Saab, Mathew Tobin, Michael |
author_sort | Borsuk, Michael |
collection | PubMed |
description | INTRODUCTION: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination. Urea cycle disorders are typically diagnosed on neonatal screening but rarely can lie dormant until a metabolic stressor causes initial onset of symptoms in adulthood. CASE REPORT: A 23-year-old female presented four days postpartum to the emergency department (ED) obtunded and declined to the point of requiring intubation. Labs revealed hyperammonemia, and she was subsequently found to have CTLN1. CONCLUSION: Urea cycle disorders presenting in adulthood are a rare etiology for the common ED complaint of altered mental status. The low incidence makes these treatable disorders easy to overlook leading to potentially significant morbidity and mortality. Therefore, it is important to recognize the risk factors that can trigger an acute metabolic derangement. This case highlights common risk factors for metabolic stress, possible presenting symptoms, and the positive outcome achievable when recognized and treated in a timely fashion. |
format | Online Article Text |
id | pubmed-9983343 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-99833432023-03-04 Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report Borsuk, Michael Saab, Mathew Tobin, Michael Clin Pract Cases Emerg Med Case Report INTRODUCTION: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination. Urea cycle disorders are typically diagnosed on neonatal screening but rarely can lie dormant until a metabolic stressor causes initial onset of symptoms in adulthood. CASE REPORT: A 23-year-old female presented four days postpartum to the emergency department (ED) obtunded and declined to the point of requiring intubation. Labs revealed hyperammonemia, and she was subsequently found to have CTLN1. CONCLUSION: Urea cycle disorders presenting in adulthood are a rare etiology for the common ED complaint of altered mental status. The low incidence makes these treatable disorders easy to overlook leading to potentially significant morbidity and mortality. Therefore, it is important to recognize the risk factors that can trigger an acute metabolic derangement. This case highlights common risk factors for metabolic stress, possible presenting symptoms, and the positive outcome achievable when recognized and treated in a timely fashion. University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine 2023-01-24 /pmc/articles/PMC9983343/ /pubmed/36859323 http://dx.doi.org/10.5811/cpcem.2022.10.57277 Text en © 2023 Borsuk et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) License. See: http://creativecommons.org/licenses/by/4.0/e (https://creativecommons.org/licenses/by/4.0/) |
spellingShingle | Case Report Borsuk, Michael Saab, Mathew Tobin, Michael Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title | Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title_full | Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title_fullStr | Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title_full_unstemmed | Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title_short | Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report |
title_sort | rare adult-onset citrullinemia type 1 in the postpartum period: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983343/ https://www.ncbi.nlm.nih.gov/pubmed/36859323 http://dx.doi.org/10.5811/cpcem.2022.10.57277 |
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