Work

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

Year: 2025

Type: article

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.

Source: European Journal of Case Reports in Internal Medicine

DOI: 10.12890/2025_005198

Authors: Çağdaş Kaya, Ayli Heydari, Oğuz Kızılay, Ozan Kızılay, Gülbüz Sezgin

Institutions: Niğde Ömer Halisdemir Üniversitesi, Maltepe University, Bahçeşehir University

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $323