Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI.

We assessed levels of plasma selenium (Se), selenoproteins and their change after Se supplementation in patients with mucopolysaccharidosis (MPS) types I, II and VI. This was done in a retrospective study of the medical records of 30 patients with MPS I (n=13), MPS II (n=9) and MPS VI (n=8) who were being treated with enzyme replacement therapy. As part of routine nutritional monitoring, Se levels were measured, revealing that 28 patients (93.3%) had values below the normal range. Therefore, they received supplementation for 12 months, and Se was measured after 6 and 12 months. Glutathione peroxidase (GPx) activity, total glutathione (GSHt), oxidized glutathione (GSSG) and reduced glutathione (GSH) were measured at baseline and 6 months after Se supplementation. The mean GSHt at baseline was 7.90 ± 2.36 µmol/g Hb, and after Se supplementation it was 5.76 ± 1.13 µmol/g Hb; GSH/GSSG was 2.3 ± 1.16 at baseline and 0.58 ± 0.38 after supplementation. GPx activity was 16.46 ± 3.31 U/g Hb at baseline and 4.53 ± 4.92 U/g Hb after Se supplementation. The difference was shown to be statistically significant by paired t-test. In conclusion, our study demonstrated that oxidative stress parameters were altered by Se supplementation in patients with MPS I, II and VI who were previously deficient in Se.

Evaluation of food intake in patients with mucopolysaccharidosis

Background: Mucopoly saccharidosis (MPS) are inborn errors of metabolism (IEM) recognized by deficient enzymes enrolled in glycosaminoglycans catabolism. The resulting accumulation of glycosaminoglycans leads to clinical progressive and generalized manifestations. Considering the severity of MPS and the relevance of establishing dietetic strategies to these patients, the present study was tailored to evaluate the food intake in patients with MPS types I, II, and VI. Methods: Food intake in patients with MPS I, II, and VI was assessed. A descriptive cross-sectional study was conducted. Energetic demand based on estimated necessity of energy equations and reported food intake was analyzed. Total energetic value and nutrients (vitamins B1, B2, C, calcium, iron, and phosphate) were analyzed inaccordance with the standardized interval for macronutrient distribution and the method of apparent adequacy for nutrient intake. Results: Food intake of 17 patients (6- to 30-year-olds) was considered adequate regarding macronutrients. Children and adolescents failed in presenting this parameter. Macronutrients were satisfactory in both groups. Children and adolescents displayed increased intake of iron and vitamins B1 (p< 0.05), B2, B3, and C (p< 0.077)and probability of adequacy≥50%. Calcium and phosphorus intake was greater in adults. Conclusions: The results obtained demonstrated that patients with MPS have nutrition deficiency in their diet, which may directly or indirectly influence the course of the disease.