Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management

This case highlights the importance of considering multiple metabolic disorders in patients with unexplained clinical and biochemical findings. Early diagnosis and stringent dietary management are crucial for preventing neurological damage and ensuring favorable outcomes in patients with concurrent metabolic disorders.

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Publication Details

Journal
Journal of Pediatric Endocrinology and Metabolism
Published
2025-01-09
DOI
https://doi.org/10.1515/jpem-2024-0378
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
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article

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management

Bülent Uyanık, Gülden Gökçay, Mehmet Cihan Balcı, Arzu Selamioğlu et al.
2 links
Journal of Pediatric Endocrinology and Metabolism
Metabolism and Genetic Disorders
article

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management

Bülent Uyanık, Gülden Gökçay, Mehmet Cihan Balcı, Arzu Selamioğlu, Tuğba Kozanoğlu, Asuman Gedikbaşı, Meryem Karaca, İlknur Hacıoğlu
article en

Abstract

This case highlights the importance of considering multiple metabolic disorders in patients with unexplained clinical and biochemical findings. Early diagnosis and stringent dietary management are crucial for preventing neurological damage and ensuring favorable outcomes in patients with concurrent metabolic disorders.

Journal of Pediatric Endocrinology and MetabolismVol. 38(3)
Bezmiâlem Vakıf Üniversitesi (TR), Bağcılar Eğitim ve Araştırma Hastanesi (TR), Istanbul University (TR)
Good health and well-being
Openalex Percentile: Top 100%
Metabolism and Genetic Disorders
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