Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Borsuk, Michael, Saab, Mathew, Tobin, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine 2023
Materias:
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
_version_ 1784900524895633408
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
work_keys_str_mv AT borsukmichael rareadultonsetcitrullinemiatype1inthepostpartumperiodacasereport
AT saabmathew rareadultonsetcitrullinemiatype1inthepostpartumperiodacasereport
AT tobinmichael rareadultonsetcitrullinemiatype1inthepostpartumperiodacasereport