Epilepsy & Seizures
Atypical absence seizures
Oct. 31, 2023
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Gyrate atrophy pathophysiology
Two nonexclusive hypotheses of hyperornithinemia action in pathophysiology of gyrate atrophy. In one, high ornithine concentration inhibits AGAT (arginine:glycine amidinotransferase) with subsequent lowering of guanidinoacetate, creatine, and phosphocreatine. In the other, high ornithine inhibits the P5C (delta1 pyrroline-5-carboxylate) synthase. These changes combined with the inherited deficiency of ornithine aminotransferase (black rectangle) result in decreased formation of P5C and proline. (Contributed by Dr. Andreas Schulze.)