<scp>An</scp> Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19-month-old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver function tests. Further work-up, including succinylacetone testing, confirmed tyrosinemia. She responded remarkably to nitisinone treatment.
Authors
- Mohammad Hadi Imanieh (ORCID: https://orcid.org/0000-0003-4610-0413)
- Mojtaba Khazaei (ORCID: https://orcid.org/0009-0003-7773-2023)
- Hamide Barzegar (ORCID: https://orcid.org/0000-0003-1114-5937)
- Mahsa Rouhafshari (ORCID: https://orcid.org/0009-0002-7651-5265)
- Zahra Radaei
Institutions
- Shiraz University of Medical Sciences (IR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/ccr3.70384
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00