Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report

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dc.authorid0000-0002-0684-3303
dc.authorid0000-0001-5850-367X
dc.contributor.authorSenel, Mert
dc.contributor.authorCakmak, Isik Batuhan
dc.contributor.authorGurkan, Sahin
dc.contributor.authorKorkmaz, Sukru Alperen
dc.contributor.authorCatli, Bengisu
dc.contributor.authorCeylan, Ahmet Cevdet
dc.contributor.authorUrey, Gulten Burcu Civelek
dc.date.accessioned2026-02-03T12:00:09Z
dc.date.available2026-02-03T12:00:09Z
dc.date.issued2025
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractIntroduction: Porphyrias constitute a collection of hereditary metabolic disorders arising from disturbances in the enzymatic activities inherent to the heme biosynthetic pathway. Eight subtypes of porphyria, each associated with enzymes in the heme biosynthesis pathway, have been identified. Hereditary coproporphyria is one of the porphyria subtypes characterized by neuropsychiatric clinical features. It develops as a result of a deficiency in coproporphyrinogen oxidase enzyme activity. Consequently, an accumulation of coproporphyrin and its precursor metabolites is observed. Hereditary coproporphyria exhibits autosomal dominant inheritance. Following clinical suspicion, a diagnosis is made with biochemical and genetic tests. The presence of nonspecific symptoms and the lack of consideration for porphyria in differential diagnosis complicate the diagnosis. Case: An 18-year-old male patient was referred to our psychiatry clinic onlywith psychiatric complaints. The mental status examination revealed affective signs, along with visual hallucinations and delusions. Blood tests and cranial scans at admission showed no abnormalities. After initiating treatment with valproic acid and olanzapine for a presumptive diagnosis of bipolar I disorder, a manic episodewith psychoticfeatures, the patient's general medical condition worsened. During clinical observation, the appearance of neurological and gastrointestinal system findings led to a reconsideration of the diagnosis, and porphyria was considered. Urine tests revealed elevated levels of porphyrin intermediates. The diagnosis of hereditary coproporphyria was confirmed by genetic testing, which identified the c.734 C>T mutation in the coproporphyrinogen oxidase gene. Symptomatic relief was observed following a carbohydrate-rich diet without the need for psychotropic treatment. Conclusion: Although their subtypes exhibit distinct clinical features, porphyrias typically present with involvement of multiple systems. Cases that initially present with symptoms specific to a single system can pose diagnostic challenges. In our case report, we aimed to present the psychiatric onset of hereditary coproporphyria, a rare subtype of porphyria known for its potentially fatal attacks when untreated.
dc.identifier.doi10.29399/npa.28917
dc.identifier.endpage392
dc.identifier.issn1300-0667
dc.identifier.issn1309-4866
dc.identifier.issue4
dc.identifier.pmid41383901
dc.identifier.scopus2-s2.0-105025682484
dc.identifier.scopusqualityQ3
dc.identifier.startpage390
dc.identifier.urihttps://doi.org/10.29399/npa.28917
dc.identifier.urihttps://hdl.handle.net/20.500.12428/34530
dc.identifier.volume62
dc.identifier.wosWOS:001634892200016
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTurkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegi
dc.relation.ispartofNoropsikiyatri Arsivi-Archives of Neuropsychiatry
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20260130
dc.subjectCase report
dc.subjectcoproporphyrinogen oxidase
dc.subjecthereditary coproporphyria
dc.subjectporphyrias
dc.titlePsychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report
dc.typeArticle

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