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Adult Onset Ornithine Transcarbamylase Deficiency: A Rare Cause of Psychosis

Published online by Cambridge University Press:  01 August 2024

Hoi Ying Choi
Hoi Ying Choi*
Affiliation:
Kwai Chung Hospital, Hong Kong, Hong Kong
*
*Presenting author.
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Abstract

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Aims

Ornithine transcarbamylase (OTC) is an enzyme of the urea cycle catalyzing the condensation of carbamyl phosphate and ornithine to form citrulline. OTC deficiency leads to elevated serum ammonia and presents as different neurological or psychiatric symptoms. OTC deficiency is an X-linked inborn error of metabolism and most cases occur in neonatal period with severe presentation. Lesser known is the late-onset form that remains latent from infancy and only presents with intriguing symptoms mimicking psychiatric disease in adulthood.

Methods

Case report.

Results

We describe a case of adult-onset OTC deficiency in a 40-year-old man with borderline intellectual functioning and a psychotic episode following a protein rich meal. The case was first diagnosed as undifferentiated schizophrenia, until the genetic study was carried out.

Conclusion

Awareness of the adult onset ornithine transcarbamylase deficiency being a rare but possible differential diagnosis in a patient with acute psychiatric symptoms with hyperammonemia. Organic causes such as cerebral, metabolic, toxic causes of psychosis should be actively sought especially when encountering cases of acute psychosis.

Type
6 Case Study
Information
BJPsych Open , Volume 10 , Supplement S1: Abstracts from the RCPsych International Congress 2024, 17–20 June , June 2024 , pp. S274 - S275
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
Copyright © The Author(s), 2024. Published by Cambridge University Press on behalf of Royal College of Psychiatrists

Footnotes

Abstracts were reviewed by the RCPsych Academic Faculty rather than by the standard BJPsych Open peer review process and should not be quoted as peer-reviewed by BJPsych Open in any subsequent publication.

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