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 α-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
| Title | Year | Author | Number |
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RU2701724C1 |
