The diagnostic value of the study of the cytochemical activity of enzymes in hereditary mitochondrial diseases

Examined in 8 patients with hereditary neurological mitochondrial disease. Through cytochemical analysis of lymphocytes in the peripheral blood, assessed the activity of 4 enzymes of mitochondria, involved in carbohydrate metabolism (lactate), metabolism of amino acids (glutaraldehydes), metabolism of fatty acids (α-glycerophosphorylcholine) and complex II of the respiratory chain of mitochondria (succinate dehydrogenase). Investigated the lactate in the blood before meals and after exercise carbohydrates. In 3 patients with optic atrophy of Leber three patients with optic atrophy of Leber, the activity rate of succinate dehydrogenase and α-glycerophosphorylcholine was changed. The level of lactate in the blood before meals were elevated after exercise with carbohydrates - in the normal range. The patient with the SANDO syndrome was changed, the activity rate of succinate dehydrogenase, α-glycerophosphate dehydrogenase and glutamate decarboxylase. The level of lactate in the blood were elevated after a meal significantly more. The syndrome MERRF cytochemical activity of mitochondrial enzymes have been totally reduced. Lactate was elevated before and after eating. The syndrome PEOA3 all cytochemical activity of mitochondrial enzymes was changed. Lactate in the blood before the food has been upgraded. The syndrome MELAS lactate in the blood was increased. Altered activity of mitochondrial enzymes except lactate dehydrogenase. The syndrome of Alpers-Huttenlocher was changed: the indexes of glutamate decarboxylase and α-glycerophosphate dehydrogenase. Lactate was elevated. Thus, the used method of investigation of the cytochemical activity of mitochondrial enzymes is effective for the evaluation of its violations.

mitochondria, succinate dehydrogenase, α-glycerophosphorylcholine, glutamate decarboxylase, lactate dehydrogenase, mitochondrial disease, lactate