Manifestations of mitochondrial dysfunction in children with connective tissue dysplasia and chronic gastroduodenitis

According to the literature, signs of mitochondrial dysfunction are found in 15–20% of children in the population. It often accompanies physical illness. The digestive tract is an energy-intensive system of organs, so violations of energy metabolism affect its functioning. The aim of this study was to determine the basal level of carnitine and its fractions in children with connective tissue dysplasia and chronic gastroduodenitis and to evaluate their dynamics after L-carnitine therapy. 77 children with this somatic pathology were examined. Depending on the presence of connective tissue dysplasia, they were divided into 2 groups – the main and the comparison group. Blood levels of total and bound carnitine were determined in all patients using liquid tandem chromatomass-spectrometry. Free carnitine was calculated as the difference between total and bound. It was found that in children with connective tissue dysplasia basal levels of total carnitine and its fractions are significantly lower than in patients of the comparison group. Carnitine and fractions increased in all children after a 30-day course of therapy with L-carnitine, reaching normal values with a reduced basal level. The degree of increase in indicators was greater in patients with initially lower levels, which was observed primarily in a group with connective tissue dysplasia. This study showed that connective tissue dysplasia in most cases is accompanied by mitochondrial dysfunction. Most patients with connective tissue dysplasia and chronic gastroduodenitis require correction of energy metabolism disorders using energy-stimulating therapy.