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L’acidurie 3-hydroxy-3-méthylglutarique est une maladie rare de transmission autosomique récessive, liée à un déficit en 3-hydroxy-3-méthylglutarylCoA lyase (HMG-CoA lyase), enzyme mitochondriale impliquée dans la cétogenèse et dans la dernière étape du catabolisme de la l-leucine. Un déficit en HMG-CoA lyase expose dans des circonstances particulières telles qu’un état fébrile, le jeûne ou des troubles...
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.