Clinical manifestations of disorders of cellular energy metabolism in somatic diseases in children

Rossijskij Vestnik Perinatologii i Pediatrii

I. I. Ivanova¹  S. F. Gnusayev¹  A. A. Ilyina¹ 

[1] Tver State Medical University, Tver;

关键词: children;    mitochondrial disorders;    mitochondrial diseases;    connective tissue dysplasia;    l-carnitine;    energy-rich therapy;   

DOI  :  10.21508/1027-4065-2018-63-2-27-33

来源: DOAJ

【 摘 要 】

The article presents current views on energy metabolism in a living cell, information on the mechanisms of its implementation in norm and in pathology. The methods of diagnostics of intracellular energy disturbances including the assessment of mitochondrial enzymes activity in blood lymphocytes, the level of total and bound carnitine using photoelectrocolorimetry and liquid tandem chromatomass spectrometry methods are discussed in detail. The main clinical manifestations of mitochondrial disorders are described: pathological manifestations on the part of the muscular and central nervous systems, the heart, other somatic organs, the polysystemic nature of lesions. The authors analyze the recent medical publications on the state of energy metabolism in different pathologies in children: with mitochondrial diseases, pathology of the digestive tract, urinary system, vegetovascular dystonia, etc. Data on the ways of correction of energy metabolism disorders using the energy-rich therapy are presented. It is convincingly shown that mitochondrial disorders require L-carnitine preparations in the form of monotherapy or in combination with other drugs.

【 授权许可】

Unknown