Management of porphyria-like syndrome in tyrosinemia type 1
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Hacer Basan
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Berrak Bilginer Gürbüz
,
Fatih Gürbüz
Abstract
Objectives
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disorder that may present with severe hepatic and neurological complications. Acute porphyria-like crises in HT1 are extremely uncommon and may be associated with severe electrolyte disturbances such as hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH).
Case presentation
We describe a 9-year-old girl with genetically confirmed HT1 who developed an acute porphyria-like crisis accompanied by severe symptomatic hyponatremia secondary to SIADH. The patient presented with abdominal pain, vomiting, and progressive neurological deterioration culminating in generalized tonic–clonic seizures. Laboratory evaluation revealed profound hyponatremia, elevated urinary succinylacetone, and increased porphyrin precursors. Management included intravenous hemin therapy, fluid restriction, and intensive care support, leading to full neurological recovery without sequelae.
Conclusions
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.
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Research ethics: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Written informed consent was obtained from the patient’s parents for publication of this case report and any accompanying images.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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