[Case of diagnostics of a rare form of glycogen disease].

Differential diagnosis of hypoglycemic syndrome remains an urgent problem in Pediatrics. In this article, a case of glycogen storage disease (BNG) type 0 is described in the boy, which is undoubtedly a rare pathology, which makes it difficult to diagnose this form of glycogenosis. In this description, the case of type 0 BNG is caused by a mutation in the GYS2 gene encoding the hepatic isoform of glycogen synthase. This form of the disease is usually asymptomatic in infancy. However, it can be suspected in the case when the refusal of night feeding causes certain difficulties due to the hungry ketotic hypoglycemia that occurs in the child. The first clinical symptoms appear in early childhood with the inclusion of a more varied diet in the child, increasing the intervals between meals. Symptoms of the disease are primarily caused by hypoglycemia. It should be noted that, despite the low levels of glycemia, most children do not have any mental development disorders, since the increase in the level of ketone bodies in the blood plasma provides the brain with an alternative source of energy.

[Development and evaluation of efficiency of inclusion of specialized meat semi-finished products in the diet of children and teenager with celiac disease].

The purpose of the study is to evaluate the possibility and effectiveness of inclusion of specialized semi-finished meat products in the gluten-free diet of children and adolescents with celiac disease. In the article the authors present the recipe for a new type of specialized meat semi-finished products - gluten-free dumplings. As ingredients of semi-finished products rice flour, amaranth flour, flax flour, chickpea flour, corn starch, curd whey, beef, poultry, goose fat and other auxiliary ingredients were used. The results of studies of the main quality indicators (nutritional value) of a new specialized meat semi-finished product have been presented. The results of studies of the protein component of the product, related both to protein digestibility (evaluated in vitro) and to the degree of its amino acid balance, confirmed its high biological value. To substantiate the effectiveness of the inclusion of gluten-free dumplings in the diet of patients with celiac disease, clinical approbation has been carried out. In an open, prospective, nonrandomized study, 20 children with celiac disease consumed gluten-free diet for 6 months and more were included. Based on the results of the clinical and serological survey, a group of 13 children aged 7 to 15 years (mean age 9.4±0.8 years), strictly adherent to a gluten-free diet, was identified. Children received a portion of the cooked product (15-20 dumplings, which amounted to 180-250 g per day) within 1 month. Against the background of strict adherence to the gluten-free diet and a monthly course of dumplings intake, all children and adolescents were noted to have no elevation, and in some cases, a decrease in the level of specific autoantibodies, which is a proof of the absolute safety of the product for patients. The level of anti-tTG IgA decreased from 1.3 (0.5, 2.3) to 0.6 (0.1, 1.3) U/ml (p<0.05), a decrease in the level of anti-DPG IgA from 4.0 (1.1, 5.0) to 1.8 (1.3, 4.1) U/ml (p<0, 05) was also detected. Patients showed a tendency to improve anthropometric indices in the form of a decrease in the lag in the body mass from -0.22±0.3σ to 0.01±0.3σ and BMI from -0.64±0.4σ to -0.52±0.4σ (p>0.05). The hematological indices remained unchanged, while iron blood serum indexes on the background of the product intake improved: ferritin concentration increased from 27.4±3.6 to 37.7±6.0 µg/l (p<0.05), latent iron binding capacity decreased by 9.6% (p<0.05); total iron binding capacity tended to decrease by 6.4% (p=0.055) with a slight increase in iron transferrin saturation. The data obtained testify a positive effect of a new product intake on quality of a life and improvement of the general condition of patients that gives the basis to recommend the developed dumplings for inclusion in diets of patients with celiac disease.