{"id":11982,"date":"2025-04-18T12:01:21","date_gmt":"2025-04-18T10:01:21","guid":{"rendered":"https:\/\/valintermed.com\/?p=11982"},"modified":"2025-04-18T12:01:21","modified_gmt":"2025-04-18T10:01:21","slug":"defitsit-mutazy-metilmalonil-kofermenta-a","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/deficiency-of-mutazyme-methylmalonyl-coenzyme-a\/","title":{"rendered":"Methylmalonyl coenzyme A mutase deficiency"},"content":{"rendered":"
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Methylmalonyl coenzyme A (MMCA) mutase deficiency is a rare, inherited metabolic disorder caused by a deficiency of an enzyme involved in the metabolism of vitamin B12. This enzyme is required to convert methylmalonyl coenzyme A to succinyl coenzyme A, an important step in oxidative metabolism. The deficiency results in a buildup of methylmalonic acid in the body, which can lead to a variety of clinical manifestations, including neurological disorders, growth retardation, gastrointestinal disturbances, and metabolic acidosis. Without appropriate treatment, the disease can have serious consequences, including the risk of death.<\/p>\n

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