# An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review

## TL;DR

A young child with tyrosinemia type 1 showed unusual respiratory distress and improved after nitisinone treatment.

## Contribution

This case report highlights an unusual clinical presentation of tyrosinemia type 1 and successful treatment with nitisinone.

## Key findings

- A 19-month-old girl presented with respiratory distress and abnormal liver tests.
- Diagnosis of tyrosinemia type 1 was confirmed through succinylacetone testing.
- The patient showed significant improvement after starting nitisinone therapy.

## 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.