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 Medical School, 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
4Divisions of Nutrition and Metabolism, Department of Pediatrics, İstanbul University, 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 Medical Faculty, İstanbul, Türkiye
DOI : 10.4274/balkanmedj.galenos.2024.2023-10-98

Background: Fabry disease is characterized by the accumulationof globotriaosylceramide. Substrate accumulation in lysosomes isthought to trigger an inflammatory response and is responsible forprogressive organ damage through the induction of autoimmunity. Thelevels of pteridine and kynurenine pathway metabolites increase whenimmune activation is observed and are employed to monitor severaldiseases and determine prognosis.
Aims: To evaluate we aimed to elucidate the effects of immuneactivation on the pathophysiology of Fabry disease and to investigatethe 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 ageandsex-matched healthy controls were included. Blood pteridineand kynurenine metabolites were studied in both groups. Organinvolvement in Fabry disease and its correlation with the pteridine andkynurenine pathways were also investigated.
Results: The patients’ neopterin and biopterin levels and thetryptophan/kynurenine ratio were statistically higher than those of thehealthy control group (p < 0.05). A statistically significant associationwas 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 lossand tinnitus (p = 0.010, p = 0.009 and p = 0.046, respectively), andkynurenine levels and valvular heart disease (p = 0.020).
Conclusion: From the onset of the disease, patients with Fabry diseaseexhibited elevated levels of inflammation and immune activation.Furthermore, inflammation and immune activation markers can beused as early disease biomarkers.

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