Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights

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27 Oct 2026 0 comments

CONCLUSIONS: This study expands the molecular spectrum of GAMT-related disease by identifying a novel pathogenic frameshift variant and provides additional clinical and biochemical characterization of GAMT deficiency in Iranian individuals with ID. The findings highlight the importance of considering GAMT deficiency among the potentially treatable causes of unexplained intellectual disability, particularly when neurodevelopmental manifestations are accompanied by biochemical evidence of...