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

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.

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Publication Details

Journal
Nöro Psikiyatri Arşivi
Published
2025-01-01
DOI
https://doi.org/10.29399/npa.28917
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
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article

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

Erol Göka, Ahmet Cevdet Ceylan, İsmail Çakmak, Savaş Korkmaz et al.
Nöro Psikiyatri Arşivi
Porphyrin Metabolism and Disorders
article

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

Erol Göka, Ahmet Cevdet Ceylan, İsmail Çakmak, Savaş Korkmaz, Bengisu Çatlı, Çiğdem Seher Kasapkara, Şahin Gürkan, Mert Şenel, Gülten Burcu Civelek Ürey
article en

Abstract

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.

Nöro Psikiyatri ArşiviVol. 62(4)
Çanakkale Onsekiz Mart Üniversitesi (TR), Ministry of Health (TR), Ankara University (TR), Bilkent University (TR), University of Health Science (KH), Başkent University Hospital (TR), Sağlık Bilimleri Üniversitesi (TR), Ankara Yıldırım Beyazıt University (TR)
Openalex Percentile: Top 95%
Porphyrin Metabolism and Disorders
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Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report — Erol Göka, Ahmet Cevdet Ceylan, et al. · Nöro Psikiyatri Arşivi (2025) | TGRS Research Map | TGRS