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December 20, 2016 00:04

Mitochondrial diseases caused by disorders of the Krebs cycle

main representatives of this group of diseases are mainly related to the following deficiency of mitochondrial enzymes: fumarase and-keto-glutaratdegidrogenaznogo complex succinate dehydrogenase and aconitase.

Mitochondrial diseases of this class have an autosomal recessive mode of inheritance.The frequency is not installed.

The pathogenesis of the disorder is the functioning of the citric acid cycle, which occupies a central place in bioenergy metabolism of cells.

symptoms.The disease manifests in early childhood.The clinical picture is observed heavy progressive encephalopathy, microcephaly, convulsions, muscle tone.Deficit-degidrogeneazy succinate may be characterized by clinical features resembling syndrome Kearns-Sayre (violation of cardiac conduction, cardiomyopathy, ataxia, decreased visual acuity) or manifest podostroi necrotizing encephalomyopathies Leia.

Laboratory studies.Biochemical examination of children usually reveals a moderate metabolic acidosis, increased lactic acid levels in bl

ood, high renal excretion respective metabolites Krebs cycle.May include the light hypoglycemia, a slight increase in blood ammonia.The fibroblasts and myocytes define a sharp decrease in the activity of the corresponding key enzyme.

Differential diagnosis is aimed at excluding mitochondrial encephalomyopathies caused by a defect of electron transport and oxidative phosphorylation, lactic acidosis, symptomatic epilepsy, perinatal encephalomyopathies.

treatment.For stimulation of energy metabolism in the complex treatment using various enzymatic reactions cofactors: Coenzyme Q-10 to 60-90 mg / day, vitamin B1, B2, B6, nicotinamide 30-60 mg / day, levocarnitine preparations (25-50 mg / kgper day) for 3-4 months, cytochrome C 2-4 ml intramuscularly or intravenously (10 injections for the course).Recommended frequent feeding with an increase in carbohydrate intake to 60% of caloric intake.Despite treatment, its effectiveness needs further research and evidence.