Abstract
Objective: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis, resulting in creatine deficiency and in accumulation of guanidinoacetate (GAA) in brain and body fluids. The symptoms and the severity of this disease are variable. In this study we analyzed clinical, biochemical and molecular findings in 16 patients with GAMT deficiency.
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