Article
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
Molecular genetics and metabolism - 1 Nov 2013
Viau Krista S, Ernst Sharon L, Pasquali Marzia, Botto Lorenzo D, Hedlund Gary, Longo Nicola
Abstract excerpt
BACKGROUND: Guanidinoacetate methyltransferase (GAMT) deficiency causes cerebral creatine deficiency. Patients can have autistic behavior, seizures, intellectual disability, and severe speech delay. The goal of therapy is to increase creatine while reducing potentially neurotoxic guanidinoacetate concentrations. Here we evaluate how different therapies affect plasma guanidinoacetate levels in patients with GAMT...
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