{"id":12538,"date":"2024-10-11T19:55:52","date_gmt":"2024-10-11T17:55:52","guid":{"rendered":"https:\/\/valintermed.com\/?p=12538"},"modified":"2024-10-11T19:55:52","modified_gmt":"2024-10-11T17:55:52","slug":"pervichnyy-defitsit-karnitina","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/primary-carnitine-deficiency\/","title":{"rendered":"Primary carnitine deficiency"},"content":{"rendered":"
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Primary carnitine deficiency is a rare inherited disorder caused by insufficient levels of carnitine in the body, which leads to impaired fatty acid metabolism and, as a result, to depletion of energy reserves. Carnitine, a biologically active compound, plays a key role in the transport of long-chain fatty acids into the mitochondria of cells, where they undergo \u03b2-oxidation. Carnitine deficiency can manifest itself in various clinical forms, including myopathy, cardiomyopathy, and liver dysfunction. Symptoms of this condition include muscle weakness, fatigue, respiratory distress, and hypoglycemia. Rationale for effective measures to diagnose and treat this disease is an urgent task in clinical medicine.<\/p>\n

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