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October 13, 2025Journal of Pediatric Endocrinology and Metabolism

Management of porphyria-like syndrome in tyrosinemia type 1

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Authors

HBHacer BasanBGBerrak Bilginer GürbüzFGFatih Gürbüz

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Overview

This case reports an acute porphyria-like crisis in a child with tyrosinemia type 1, revealing severe hyponatremia and highlighting the role of fluid management.

Key Points

  • Management with intravenous hemin therapy led to full neurological recovery in a 9-year-old girl.
  • The patient exhibited severe symptomatic hyponatremia and presented with abdominal pain and vomiting.
  • This case marks the first successful treatment of an acute porphyria-like episode in tyrosinemia type 1 in Türkiye.
  • Recognition of SIADH is crucial for effective management in acute neurological crises associated with tyrosinemia type 1.

Cite This Study

Basan et al. (2025) studied this question.

synapsesocial.com/papers/68ed3352c8c3d6f5ff5ddaa4https://doi.org/10.1515/jpem-2025-0311
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 12024 · 2 citations
  2. 2Teenage Girl with Tyrosinemia Type 1 Masquerading as Hepatic Insufficiency: A Rare Case Report2024
  3. 3Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report2024 · 2 citations
  4. 4Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations2017 · 252 citations
  5. 5Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (<scp>4OHHA</scp>), a putative diagnostic biomarker2024