{"id":11979,"date":"2025-04-18T12:03:25","date_gmt":"2025-04-18T10:03:25","guid":{"rendered":"https:\/\/valintermed.com\/?p=11979"},"modified":"2025-04-18T12:03:25","modified_gmt":"2025-04-18T10:03:25","slug":"defitsit-mitohondrialnogo-kompleksa-v","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/mitochondrial-complex-deficiency\/","title":{"rendered":"Mitochondrial complex V deficiency"},"content":{"rendered":"
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Mitochondrial complex V deficiency, also known as Leberet syndrome, is a rare genetic disorder that involves dysfunction of mitochondria, the cellular organelles responsible for energy production. The disorder causes a deficiency of the enzyme ATP synthase, which is a key component of energy metabolism. The main clinical manifestations of mitochondrial complex V deficiency include muscle weakness, fatigue, myopathy, and, in more severe cases, nervous system manifestations such as epilepsy and cognitive impairment. Because mitochondria play a critical role in the production of adenosine triphosphate (ATP), the main energy carrier for cells, their dysfunction can lead to serious metabolic and organic dysfunctions.<\/p>\n

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