Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review

Aleksandra Przybycień; Wiesława Hołub-Kucharska; Jerzy Węgielnik; Jarosław Sławek

doi:10.5114/ppn.2025.151783

eISSN: 2720-5371
ISSN: 1230-2813

Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii

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2/2025
vol. 34

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Opis przypadku

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review

Aleksandra Przybycień

¹

,

Wiesława Hołub-Kucharska

¹

,

Jerzy Węgielnik

²

,

Jarosław Sławek

^{1, 3}

Neurology and Stroke Department, St. Adalbert Hospital, Gdansk, Poland
Intensive Care Unit, St. Adalbert Hospital, Gdansk, Poland
Department of Neurological-Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Poland

Adv Psychiatry Neurol 2025; 34 (2): 116-123

DOI: https://doi.org/10.5114/ppn.2025.151783

Data publikacji online: 2025/06/23

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AMA

Przybycień A, Hołub-Kucharska W, Węgielnik J, Sławek J. Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii. 2025;34(2):116-123. doi:10.5114/ppn.2025.151783.

APA

Przybycień, A., Hołub-Kucharska, W., Węgielnik, J.,  & Sławek, J. (2025). Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, 34(2), 116-123. https://doi.org/10.5114/ppn.2025.151783

Chicago

Przybycień, Aleksandra, Wiesława Hołub-Kucharska, Jerzy Węgielnik,  and Jarosław Sławek. 2025. "Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review". Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii 34 (2): 116-123. doi:10.5114/ppn.2025.151783.

Harvard

Przybycień, A., Hołub-Kucharska, W., Węgielnik, J.,  and Sławek, J. (2025). Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, 34(2), pp.116-123. https://doi.org/10.5114/ppn.2025.151783

MLA

Przybycień, Aleksandra et al. "Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review." Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, vol. 34, no. 2, 2025, pp. 116-123. doi:10.5114/ppn.2025.151783.

Vancouver

Przybycień A, Hołub-Kucharska W, Węgielnik J, Sławek J. Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii. 2025;34(2):116-123. doi:10.5114/ppn.2025.151783.

Metryki PlumX:

Purpose
Progressive cognitive disorders are not always caused primarily by neurodegenerative diseases. This case report emphasizes the importance of taking rare metabolic disorders into consideration in the differential diagnosis in patients of all ages. It also shows the possible risk of corticosteroids in the treatment of unexplained neurological symptoms.

Case description
We report on the case of a 60-year-old female who presented mild dementia with progression and fluctuations for the last 5 years, scanning speech and wide-base gait. Due to a significantly elevated level of anti-thyroid peroxidase antibodies, steroid responsive encephalopathy in autoimmune thyroiditis (STREAT) was suspected and steroids were administered. This was a trigger factor for the patient developing coma with severe hyperammonemia. Consequent genetic testing identified a pathogenic variant of the OTC (ornithine transcarbamylase) gene.

Comment
Late-onset ornithine transcarbamylase deficiency can be a rare cause of cognitive impairment. It is reasonable to determine the level of ammonia in patients with non-specific symptoms, as hyperammonemia can cause permanent brain damage.

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review

Aleksandra Przybycień 1 , Wiesława Hołub-Kucharska 1 , Jerzy Węgielnik 2 , Jarosław Sławek 1, 3

Aleksandra Przybycień

¹

,

Wiesława Hołub-Kucharska

¹

,

Jerzy Węgielnik

²

,

Jarosław Sławek

^{1, 3}