METHOD FOR DIFFERENTIAL DIAGNOSIS OF POLYSYSTEMIC MITOCHONDRIAL DEFICIENCY IN CHILDREN

摘要

FIELD: medicine, laboratory diagnosis, biochemistry, pediatrics. ^ SUBSTANCE: method involves cytochemical analysis of activity of enzymes of bioenergetic metabolism in peripheral blood lymphocytes, in particular, mean amount of small granules of enzyme alpha-glycerophosphate dehydrogenase and index of factor of ellipse claster for enzyme glutamate dehydrogenase. Then the determination coefficient (p) is measured and differentiation is carried out by value p for the presence inherited mitochondrial deficiency in a patient - p < 1/2, or for belonging of a patient to inherited diseases with accompanying mitochondrial deficiency - p > 1/2. Using this method provides improving differential diagnosis of inherited diseases associated with different forms of polysystemic disorders of cellular energy metabolism in children. ^ EFFECT: improved method of diagnosis. ^ 2 ex