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Schematic representation of the Leloir pathway and associated reactions

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Several forms of galactosemia can be caused by deficiency of GALM, GALT, GALK1, or GALE. (Source: Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: biochemistry, molecular genetics, newborn screening, and treatment. Biomolecules 2022;12(7):968. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)