Guanidinoacetate Methyltransferase (GAMT) Deficiency

Guanidinoacetate methyltransferase deficiency is a creatine deficiency syndrome characterized by developmental delay, seizures, behavioral abnormalities, and movement disorders. Brain MR spectroscopy shows reduced creatine and elevated guanidinoacetate. Genetic testing confirms the diagnosis, enabling targeted treatment with creatine and dietary modification.