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Reshaping the Treatment Landscape of a Galactose Metabolism Disorder

14 Feb 2025

Abstract excerpt

The Leloir pathway was elucidated decades ago, unraveling how galactose is metabolized in the body. Different inborn errors of metabolism in this pathway are known, the most frequent and well-studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene. Substrate reduction using dietary restriction of galactose is currently the only available treatment option. Although this...

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PMID: 39953772
DOI: 10.1002/jimd.70013

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