Management of porphyria-like syndrome in tyrosinemia type 1
To our knowledge, this is the first reported case in Türkiye successfully managed with hemin during an acute porphyria-like episode in HT1 and only the second documented case of SIADH in this context. This case underscores the importance of recognizing SIADH and optimizing fluid management in patients with HT1 presenting with acute neurological crises.
Authors
- Berrak Bilginer Gürbüz (ORCID: https://orcid.org/0000-0002-6197-0647)
- Çiğdem Seher Kasapkara (ORCID: https://orcid.org/0000-0002-3569-276X)
- Fatih Gürbüz (ORCID: https://orcid.org/0000-0003-2160-9838)
- Aynur Küçükçongar Yavaş (ORCID: https://orcid.org/0000-0002-4766-300X)
- Serhan Özcan (ORCID: https://orcid.org/0000-0003-4465-6063)
- Hacer Basan (ORCID: https://orcid.org/0000-0002-1224-5756)
Institutions
- Memorial Ankara Hospital (TR)
- Ankara Yıldırım Beyazıt University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-10-12
- DOI
- https://doi.org/10.1515/jpem-2025-0311
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00