Article
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
American journal of human genetics - 3 Jun 2021
Morava Eva, Schatz Ulrich A, Torring Pernille M, Abbott Mary-Alice, Baumann Matthias, Brasch-Andersen Charlotte, Chevalier Nathalie, Dunkhase-Heinl Ulrike, Fleger Martin, Haack Tobias B, Nelson Stephen, Potelle Sven, Radenkovic Silvia, Bommer Guido T, Van Schaftingen Emile, Veiga-da-Cunha Maria
Abstract excerpt
We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-sugars synthesis and ensuing glycosylation reactions. While PGM2 has a wide tissue distribution, PGM2L1 is highly expressed in the brain, accounting for the elevated...
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