GLUT1DS-related developmental and epileptic encephalopathy
May. 14, 2024
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Scheme of galactose metabolism
Abbreviations: CO2, carbon dioxide; GALE, UDP-alpha-D-galactose 4-epimerase; GALK, galactokinase; GALT, galactose 1-phosphate uridylyltransferase; HK, hexokinase; PGM1, phosphoglucomutase isoform I; UGP, UDP-alpha-D-glucose pyrophosphorylase. Solid arrows indicate single enzymatic reactions, dashed arrows indicate a sequence of enzymatic reactions (omitted), and blue dotted arrows indicate the contribution of different biochemical pathways to the production of CO2. (Source: Conte F, van Buuringen N, Voermans NC, Lefeber DJ. Galactose in human metabolism, glycosylation, and congenital metabolic diseases: time for a closer look. Biochim Biophys Acta Gen Subj 2021;1865[8]:129898. CC BY License, http://creativecommons.org/licenses/by/4.0.)