{"id":11980,"date":"2025-04-18T12:02:47","date_gmt":"2025-04-18T10:02:47","guid":{"rendered":"https:\/\/valintermed.com\/?p=11980"},"modified":"2025-04-18T12:02:47","modified_gmt":"2025-04-18T10:02:47","slug":"defitsit-mitohondrialnogo-trifunktsionalnogo-belka","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/mitochondrial-trifunctional-protein-deficiency\/","title":{"rendered":"Mitochondrial trifunctional protein deficiency"},"content":{"rendered":"
<\/div>\n

Mitochondrial trifunctional protein (MTFP) deficiency is a rare inherited disorder of fatty acid metabolism. The disorder is caused by a deficiency of a specific protein responsible for the oxidation of long-chain fatty acids in the mitochondria, which in turn leads to the accumulation of toxic intermediates and disruption of cellular energy metabolism. Clinical manifestations of the disease range from mild muscle weakness and fatigue to more serious conditions including myopathy and cardiomyopathy. Given the metabolic consequences, this defect can affect multiple body systems, including the nervous, cardiovascular and muscular systems.<\/p>\n

\n
\n

Content<\/p>\nToggle<\/span><\/path><\/svg><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n