Carglumic acid approved to treat genetic hyperammonemia

FDA on March 18 approved the marketing of carglumic acid, or Carbaglu, for the treatment of a rare genetic enzyme deficiency that results in elevated levels of ammonia in the blood and can be fatal. N-acetylglutamate synthase deficiency is the rarest disorder of the urea cycle, according to Paris-based Orphan Europe, manufacturer of the new treatment. Without that enzyme, N-acetylglutamate does not form and activate the first enzyme of the urea cycle. The consequence is a buildup of ammonia, which can eventually cross the blood–brain barrier and cause neurologic problems, cerebral edema, coma, and death. Carglumic acid, the company said, resembles N-acetylglutamate sufficiently to activate the first enzyme of the urea cycle and quickly reduce plasma ammonia levels to normal in patients deficient in N-acetylglutamate synthase. The FDA-approved labeling for carglumic acid describes the drug as efficacious in helping to treat acute hyperammonemia due to N-...