DOI: 10.1002/ccr3.70384 ISSN: 2050-0904
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review
Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar 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.