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Updated: May 8, 2026

Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia
Published on: September 18, 2013
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review
Mahsa Rouhafshari1, Mohammad Hadi Imanieh2, Mahdi Khazaei3
1Department of Pediatric Gastroenterology Shiraz University of Medical Sciences Shiraz Iran.
Abstract:
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.
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