Different Clinic, Different Diagnosis: Tyrosinemia Type 3
This case underscores the diagnostic importance of considering inherited metabolic disorders in infants presenting with severe photosensitivity and conjunctival irritation, even in the absence of other systemic features. Furthermore, it highlights the need for long-term follow-up to monitor potential neurological and ocular complications associated with persistently elevated tyrosine levels.
Authors
- Aynur Küçükçongar Yavaş (ORCID: https://orcid.org/0000-0002-4766-300X)
- Serdar Ceylaner (ORCID: https://orcid.org/0000-0003-2786-1911)
- Hacer Basan (ORCID: https://orcid.org/0000-0002-1224-5756)
Institutions
- Bilkent University (TR)
- Intergen (Turkey) (TR)
- Ankara Bilkent City Hospital (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-08-08
- DOI
- https://doi.org/10.1159/000547808
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00