{"id":11174,"date":"2025-07-27T08:26:08","date_gmt":"2025-07-27T06:26:08","guid":{"rendered":"https:\/\/valintermed.com\/?p=11174"},"modified":"2025-07-27T08:26:08","modified_gmt":"2025-07-27T06:26:08","slug":"defitsit-fumarazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/fumarate-deficiency\/","title":{"rendered":"Fumarase deficiency"},"content":{"rendered":"
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Fumarase deficiency, also known as hereditary fumarase deficiency disorder, is a rare genetic disorder that belongs to a group of metabolic disorders. The condition is caused by a deficiency of fumarase, an enzyme responsible for the catabolism of amino acids and carbohydrates, which leads to the accumulation of toxic metabolites and disruption of cellular function. Fumarase deficiency can cause severe neurological disorders and various syndromes associated with the deposition of toxins in tissues. The disease manifests itself in early childhood and is characterized by a progressive deterioration in health, which makes timely diagnosis and treatment extremely important.<\/p>\n

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