Affiliation:
1. Ministry of Health of the Russian Federation
Abstract
The review presents metabolomic studies of primary mitochondrial diseases. The focus is on Leber’s hereditary optic neuropathy (LHON), Leigh syndrome, Barth syndrome and MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Changes in the metabolome characteristic of primary mitochondrial diseases occur due to disruption of the process of oxidative phosphorylation in various tissues and ATP deficiency, as well as in defects in a number of metabolic pathways, such as tricarboxylic acid cycles, glycolysis, fatty acid / phospholipid metabolism, acylcarnitine metabolism and one carbon metabolism.
Publisher
Arterialnaya Gipertenziya