DOI: 10.12890/2025_005198

Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report

Authors

  • Çağdaş Kaya Niğde Ömer Halisdemir Training and Research Hospital, Niğde, Turkey
  • Ayli Heydari Maltepe University Hospitals, Istanbul, Turkey
  • Oğuz Kızılay Kocaeli Gebze Fatih State Hospital, Gebze, Turkey
  • Ozan Kızılay Faculty of Medicine, Bahçeşehir University, Istanbul, Turkey
  • Gülbüz Sezgin Sancaktepe State Hospital, Feriha Öz, Department of Internal Medicine, Istanbul, Turkey

ayliheydari@gmail.com

Keywords

Porphyria, biotinidase deficiency, retinitis pigmentosa

Abstract

Introduction: Hepatoerythropoietic porphyria (HEP) is an uncommon autosomal recessive disorder marked by deficiencies in enzymes involved in heme biosynthesis. This results in the build-up of porphyrins and their precursors. Here, we describe a case study of a 17-year-old male who has experienced symptoms of porphyria since early childhood.
Case description: The patient exhibited initial symptoms of porphyria, including dark-coloured urine, abdominal pain, constipation and cutaneous lesions. Genetic testing at age 17 confirmed a homozygous mutation in the UROD gene, diagnosing HEP. Additional mutations in the CNGB1 and BTD genes contributed to retinitis pigmentosa and biotinidase deficiency, respectively. The patient also experienced complications such as thumb amputation and finger developmental anomalies.
Conclusion: This case underscores the diagnostic challenges and multidisciplinary management required for patients with complex genetic profiles and rare porphyria subtypes such as HEP. Further research is essential to enhance understanding and treatment strategies for such intricate genetic conditions.

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References

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Published

2025-02-18

Issue

Vol. 12 No. 3 (2025)

Categories

How to Cite

1.
Kaya Ç, Heydari A, Kızılay O, Kızılay O, Sezgin G. Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report. EJCRIM [Internet]. 2025 Feb. 18 [cited 2026 Nov. 4];12(3). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5198