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.

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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
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article

Different Clinic, Different Diagnosis: Tyrosinemia Type 3

Aynur Küçükçongar Yavaş, Serdar Ceylaner, Hacer Basan
Molecular Syndromology
Metabolism and Genetic Disorders
article

Different Clinic, Different Diagnosis: Tyrosinemia Type 3

Aynur Küçükçongar Yavaş, Serdar Ceylaner, Hacer Basan
article en

Abstract

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.

Molecular Syndromology
Bilkent University (TR), Intergen (Turkey) (TR), Ankara Bilkent City Hospital (TR)
Good health and well-being
Openalex Percentile: Top 76%
Metabolism and Genetic Disorders
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