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Hepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report
Çağdaş Kaya1, Ayli Heydari2, Oğuz Kızılay3
1Niğde Ömer Halisdemir Training and Research Hospital, Niğde, Turkey.
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.
Learning Points:
This is a first report of hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations.
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