{"id":13448,"date":"2024-08-22T23:25:11","date_gmt":"2024-08-22T21:25:11","guid":{"rendered":"https:\/\/valintermed.com\/?p=13448"},"modified":"2024-08-22T23:25:11","modified_gmt":"2024-08-22T21:25:11","slug":"defitsit-3-gidroksi-3-metilglutaril-koa-liazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/defitsit-3-gidroksi-3-methylglutaril-koa-liazy\/","title":{"rendered":"3-hydroxy-3-methylglutaryl-CoA lyase deficiency"},"content":{"rendered":"
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl-CoA lyase) is a rare but serious metabolic disorder caused by insufficient activity of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which plays a key role in the synthesis of cholesterol and ketone bodies. This condition leads to a disturbance of fatty acid metabolism and can cause a wide range of clinical manifestations, including hypoglycemia, metabolic acidosis, and neuropsychiatric disorders. Without adequate treatment, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency can be fatal, especially in early childhood. The disease has an autosomal recessive mechanism of inheritance, and its diagnosis is often difficult, which ultimately delays the initiation of necessary treatment.<\/p>\n

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