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 Bong Bowls 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 infancy.The patients were diagnosed as having only autism and followed for years without a specific diagnosis although they had very low levels Machines 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 if low serum creatinine levels are observed.