ISSN : 2146-3123
E-ISSN : 2146-3131

Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease
Tuğçe Uçar1, Mehmet Şerif Cansever2,3, Esra Isat3,4, Tanyel Zubarioğlu4, Ayşe Çiğdem Aktuğlu Zeybek4, Birol Topçu5, Nurhan Seyahi6, Ertuğrul Kıykım4
1Department of Pediatric of Child Health and Diseases, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
2The Vocational School of Health Services, Department of Medical Documentation and Techniques, Division of Medical Laboratory Techniques, İstanbul University-Cerrahpaşa, İstanbul, Türkiye
3Research Laboratory of Metabolism, Department of Pediatrics, İstanbul University-Cerrahpaşa, İstanbul, Türkiye
4Division of Nutrition and Metabolism, Department of Pediatrics, İstanbul Universiy-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
5Department of Biostatistics, Tekirdağ Namık Kemal University Faculty of Medicine, Tekirdağ, Türkiye
6Department of Nephrology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
DOI : 10.4274/balkanmedj.galenos.2024.2023-10-98
Pages : 113-120


Background: Fabry disease is characterized by the accumulation of globotriaosylceramide. Substrate accumulation in lysosomes is thought to trigger an inflammatory response and is responsible for progressive organ damage through the induction of autoimmunity. The levels of pteridine and kynurenine pathway metabolites increase when immune activation is observed and are employed to monitor several diseases and determine prognosis.
Aims: To elucidate the effects of immune activation on the pathophysiology of Fabry disease and to investigate the potential utility of pteridine and kynurenine metabolites.
Study Design: A prospective case-control study.
Methods: In this study, 33 patients with Fabry disease and 33 age- and sex-matched healthy controls were included. Blood pteridine and kynurenine metabolites were studied in both groups. Organ involvement in Fabry disease and its correlation with the pteridine and kynurenine pathways were also investigated.
Results: The patients’ neopterin and biopterin levels and the tryptophan/kynurenine ratio were statistically higher than those of the healthy control group (p < 0.05). A statistically significant association was found between neopterin levels and hypertrophic cardiomyopathy, cardiac arrhythmias, and GFR values (p = 0.044, p = 0.021, and p = 0.030, respectively), tryptophan and corneal verticillate, hearing loss and tinnitus (p = 0.010, p = 0.009 and p = 0.046, respectively), and kynurenine levels and valvular heart disease (p = 0.020).
Conclusion: From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. Furthermore, inflammation and immune activation markers can be used as early disease biomarkers.

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