Evaluation of Serum Advanced Glycation End Products in Patients with Classic Galactosemia

Purpose Classic galactosemia is associated with long-term complications despite strict dietary compliance. Advanced glycation end products (AGEs) are implicated in various degenerative diseases but have been limitedly studied in this population. This study aimed to evaluate serum AGE levels in patients with classic galactosemia and investigate their relationship with clinical complications. Methods This case-control study included 46 patients diagnosed with classic galactosemia and 46 age- and sex-matched healthy controls. Serum AGE levels were analyzed using enzyme-linked immunosorbent assay. Clinical data regarding neurodevelopmental status and complications were analyzed retrospectively to determine correlations with serum AGE concentrations. Results Serum AGE levels were significantly higher in the galactosemia group (mean 664.96 ng/L) compared to the control group (mean 322.95 ng/L) (p < 0.001). ROC analysis demonstrated that an AGE cut-off value of 350 ng/L distinguished patients with a sensitivity of 71.7% and specificity of 67.4%. A significant negative correlation was found between age and serum AGE levels in the patient group (r=-0.582, p < 0.001), indicating higher accumulation in younger patients. The study revealed no correlation between verbal apraxia, intellectual disability, and the need for special education and AGE levels (p > 0.05). Conclusion Serum AGE levels are significantly elevated in patients with classic galactosemia, particularly in early childhood, suggesting accelerated glycation is a feature of the disease pathophysiology. While AGEs show potential as a diagnostic biomarker, levels did not directly correlate with specific neurological sequelae in this cohort, suggesting a complex multifactorial mechanism for long-term complications.