Different Clinic, Different Diagnosis: Tyrosinemia Type 3.

ABSTRACT:

Introduction

Tyrosinemia type III is an extremely rare autosomal recessive metabolic disorder resulting from biallelic pathogenic mutations in the HPD gene. To date, only a limited number of cases have been reported worldwide, and the full spectrum of clinical manifestations remains incompletely understood. While neurodevelopmental abnormalities are the most commonly described features, ocular involvement has rarely been documented.

Case presentation

Here, we present a 9-month-old girl who exhibited strikingly atypical ocular symptoms characterized by persistent severe photophobia and allergic conjunctivitis at initial presentation. This combination of findings has been reported only sporadically in the literature. Biochemical and genetic investigations confirmed the

SUBMITTER: Basan H 

PROVIDER: S-EPMC12503873 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature