{"id":11974,"date":"2025-04-18T12:19:12","date_gmt":"2025-04-18T10:19:12","guid":{"rendered":"https:\/\/valintermed.com\/?p=11974"},"modified":"2025-04-18T12:19:12","modified_gmt":"2025-04-18T10:19:12","slug":"defitsit-mevalonatkinazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/mevalonatkinase-deficiency\/","title":{"rendered":"Mevalonate kinase deficiency"},"content":{"rendered":"
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Mevalonate kinase deficiency (MKD) is a rare genetic disorder resulting from a deficiency in the enzyme mevalonate kinase, which plays a key role in the synthesis of cholesterol and other important molecules such as steroids. The disorder is classified as a form of mevalonate hypochondriasis and results in the accumulation of metabolic byproducts such as mevalonate, which can cause a variety of systemic abnormalities. The clinical presentation of MKD can range from mild to severe, including developmental disabilities, neurological symptoms, and other metabolic abnormalities. Because the disorder is genetically determined, its manifestations are often observed early in life, requiring careful diagnosis and treatment.<\/p>\n

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