{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:37:05Z","timestamp":1780468625109,"version":"3.54.1"},"reference-count":10,"publisher":"SMC Media","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Introduction:\u00a0Hepatoerythropoietic 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:\u00a0The 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\u00a0UROD\u00a0gene, diagnosing HEP. Additional mutations in the\u00a0CNGB1\u00a0and\u00a0BTD\u00a0genes contributed to retinitis pigmentosa and biotinidase deficiency, respectively. The patient also experienced complications such as thumb amputation and finger developmental anomalies. Conclusion:\u00a0This 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.<\/jats:p>","DOI":"10.12890\/2025_005198","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T14:25:22Z","timestamp":1739888722000},"source":"Crossref","is-referenced-by-count":1,"title":["Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report"],"prefix":"10.12890","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4164-8319","authenticated-orcid":false,"given":"\u00c7a\u011fda\u015f","family":"Kaya","sequence":"first","affiliation":[{"name":"Ni\u011fde \u00d6mer Halisdemir Training and Research Hospital, Ni\u011fde, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2881-6522","authenticated-orcid":false,"given":"Ayli","family":"Heydari","sequence":"first","affiliation":[{"name":"Maltepe University Hospitals, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1170-5797","authenticated-orcid":false,"given":"O\u011fuz","family":"K\u0131z\u0131lay","sequence":"first","affiliation":[{"name":"Kocaeli Gebze Fatih State Hospital, Gebze, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8687-4402","authenticated-orcid":false,"given":"Ozan","family":"K\u0131z\u0131lay","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Bah\u00e7e\u015fehir University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0774-2766","authenticated-orcid":false,"given":"G\u00fclb\u00fcz","family":"Sezgin","sequence":"first","affiliation":[{"name":"Sancaktepe State Hospital, Feriha \u00d6z, Department of Internal Medicine, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"10.12890\/2025_005198_ref1","doi-asserted-by":"crossref","unstructured":"
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  • CNGB1 cyclic nucleotide gated channel subunit beta 1 [Homo sapiens (human)] \u2013 Gene \u2013 NCBI. Available from: https:\/\/www.ncbi.nlm.nih.gov\/gene\/1258<\/li>"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5198\/4503","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5198\/4504","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5198\/4504","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T14:56:12Z","timestamp":1741013772000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/5198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,18]]},"references-count":10,"URL":"https:\/\/doi.org\/10.12890\/2025_005198","relation":{"has-manifestation":[{"id-type":"other","id":"1-123-5198-g4503","asserted-by":"subject"},{"id-type":"other","id":"1-123-5198-g4504","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-123","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,18]]}}}