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What is Novel Mutation in Glycine N-Methyltransferase Deficiency about?

This study reports a case of glycine N-methyltransferase (GNMT) deficiency in a Greek boy due to a novel mutation resulting in severe enzyme activity loss. The patient exhibited persistent hypermethioninaemia and mild liver enzyme elevation, with metabolic abnormalities similar to previously reported cases. The findings highlight the importance of GNMT in metabolism and raise questions about the long-term prognosis and potential undiagnosed cases of this deficiency.

Author

cafokid649

Language

EN