Activation of GABAA Receptors by Guanidinoacetate: A Novel Pathophysiological Mechanism

  title={Activation of GABAA Receptors by Guanidinoacetate: A Novel Pathophysiological Mechanism},
  author={Axel Neu and Henrike Neuhoff and Gerhard Trube and Susanne Fehr and Kurt Ullrich and Jochen Roeper and Dirk Isbrandt},
  journal={Neurobiology of Disease},
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of creatine biosynthesis. The disease occurs in early life with developmental delay or arrest and several neurological symptoms, e.g., seizures and dyskinesia. Both the deficiency of high-energy phosphates in neurons and the neurotoxic action of the accumulated metabolite guanidinoacetate (GAA) are candidate mechanisms for the pathophysiology of this disease. To examine a potential role of GAA… 

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