Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 Sep 20;17(9):e92766.
doi: 10.7759/cureus.92766. eCollection 2025 Sep.

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient

Rabiu Momoh  1 , Hamide Alijani  2 , K S M Zibran Zalis Gaznavee  3 , Elizabeth Ogundiya  4 , Sara Sharp  1
Affiliations
Case Reports

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient

Rabiu Momoh et al. Cureus. .

Abstract

Acute urea cycle disorder (UCD) presentation in patients can be challenging to manage, and the outcome can be deleterious if not promptly detected and urgently managed. This disorder is rare and can either be inherited or acquired. More descriptions of this disorder are noted in the paediatric population. We present a possible clinical scenario of acquired UCD in a middle-aged female with alcohol-related fatty liver disease who had a prolonged critical care admission, which culminated in an acute finding of a severe refractory acute hyperammonemia on her 67th day of critical care stay with a fatal outcome.

Keywords: acute hyperammonemia; alcohol; critical care; genetic disorders; haemodiafiltration; haemodialysis; liver dysfunction; metabolic disorder; non-cirrhotic hyperammonemia; urea cycle disorder.

PubMed Disclaimer

Conflict of interest statement

Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. XR chest studies showing pulmonary congestion feature on an anteroposterior view XR chest study done on the patient on day 4
Figure 2
Figure 2. CT abdomen and pelvis (coronal section) undertaken on day 6 revealing the state of the liver (fatty liver changes with nodular margins)
Figure 3
Figure 3. Serial ammonia studies done on the patient over the course of her admission
Figure 4
Figure 4. Serial procalcitonin studies done on the patient under review
Figure 5
Figure 5. Trend of white blood cell counts on blood studies done on the patient
Figure 6
Figure 6. Serial neutrophil count on blood studies done on the patient
Figure 7
Figure 7. CT head study demonstrating diffuse cerebral oedema, loss of grey-white differentiation, and ventricular compression
See this image and copyright information in PMC

References

    1. Urea cycle disorders: clinical presentation outside the newborn period. Smith W, Kishnani PS, Lee B, et al. Crit Care Clin. 2005;21:0–17. - PubMed
    1. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. Proc Natl Acad Sci U S A. 2000;97:8021–8026. - PMC - PubMed
    1. A mysterious case of recurrent acute hyperammonemic encephalopathy. Pendela VS, Kudaravalli P, Munoz A, Razzouk G. Cureus. 2020;12:0. - PMC - PubMed
    1. Urea cycle disorders-update. Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. J Hum Genet. 2019;64:833–847. - PubMed
    1. Armata AN. Armata AN. [ Aug; 2025 ]. Carnitine Deficiency - What Is It, Causes, Symptoms, and More. Osmosis. https://www.osmosis.org/answers/carnitine-deficiency https://www.osmosis.org/answers/carnitine-deficiency

Publication types

LinkOut - more resources