A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

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Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis.Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autism that began during early balance bikes infancy.The patients were diagnosed as having only autism and followed for years without a specific diagnosis although they had very low levels of serum creatinine for several times.

A novel nonsense mutation in the GAMT gene that caused cessation of synthesis of the protein encoded by this gene was identified in these patients.GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and autism, particularly educational toys if low serum creatinine levels are observed.