[Nutrition and orphan diseases].

Diagnosis and treatment of orphan (rare) diseases is an important problem of modern pediatrics due to multivarious clinical signs and severe course of this pathology. Orphan diseases are associated with accumulation, absence or insufficient synthesis of one or several metabolites in the organism. The absence of early diagnostics and treatment of patients with such diseases leads to bad prognosis. A diet is the main treatment method of many orphan diseases. A diet must be personalized and base on thorough examination of nutritional status. Individual diet therapy promotes an improvement of patient`s status and enhances an effect of other forms of treatment for compensation of metabolic disorders, decrease of complication risk and increase of life quality. The article summarizes the experience of treatment of children with orphan diseases in the Department of Pediatric Gastroenterology, Hepatology and Nutrition of Federal Research Centre for Nutrition, Biotechnology and Food Safety. 444 patients with inherited disorders of carbohydrate metabolism, lipid metabolism and more rare diseases (tyrosinemia, lysosomal acid lipase deficit, fructosemia, urea cycle disturbances, α1-antitrypsine insufficiency etc.) have been evaluated in the Department since 2008. The results of the examination and treatment of children with glycogen storage diseases (n=131), fructosemia (n=18), inherited disturbances of lipid metabolism (n=118) and other rare diseases are represented in the paper. The monitoring of nutritional status can help to correct therapy depending on character and severity of pathological process for benign course of the disease.

[Biomarkers of vitamin status in obese school children].

Inadequate intake of vitamins, noted in children with obesity, reduces the immune system activity, contributes to the metabolic disorders aggravation and may result in comorbidity. The aim of the work was to study sufficiency with vitamins and carotenoids of children with obesity. Material and methods. Examination of vitamin D, B2, C, A, E and ß-carotene status in 50 children (male 36.0%) aged 11-17 years [median (Me) - 14 years] with obesity [Z-score body mass index (BMI) >=2.0, Ме=2.86] by determining serum biomarkers has been conducted. Results and discussion. All of the children had an adequate supply with vitamin C (ascorbic acid level >0.4 mg/dL). Low vitamin A status (retinol <30 µg/dl) was revealed in 8% children. Deficiency of vitamin D [25(OH)D<20 ng/ml], vitamin B2 (riboflavin <5 ng/ml) and ß-carotene (<10 µg/dl) was detected in 62.0, 38.8 and 74.0% of obese children. The percentage of persons with reduced vitamin E serum level (<0.8 mg/dl) was amounted 54.0%. A severe vitamin D deficit (<10 ng/ml) has been detected in 24.0% of children with Z-score BMI >=2.86 (median value) and has not been observed in children with lower body weight, whose serum ß-carotene median was 1.5 fold higher (p<0.05). No one was adequately supplied with all 5 studied vitamins and ß-carotene. The combined deficiency of 3 or more vitamins took place in 54.0% of obese children. Synchronously suboptimal serum level of ascorbic acid (<50 µmol/l), ß-carotene (<0.4 µmol/l) and α-tocopherol/cholesterol ratio (<5.0 µmol/mmol) which is a cardiovascular disease risk factor, has been found in 28.0% of children. BMI was inversely associated with 25(OH)D serum concentration (ρ=-0.313, р=0.027). There was a pronounced negative correlation between serum level of ß-carotene and atherogenic LDL cholesterol (ρ=-0.514, p<0.001). Conclusion. The prevalence of combined vitamin D, tocopherol and carotenoids' inadequacy in obese children indicates the importance of vitamin status correction to reduce the risk of metabolic syndrome.