Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

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 concentrations of glucose-1,6-bisphosphate found there. Four individuals (three females and one male aged between 2 and 7.5 years) with bi-allelic inactivating mutations of PGM2L1 were identified by exome sequencing.

Source: The American Journal of Human Genetics - May 11, 2021 Category: Genetics & Stem Cells Authors: Eva Morava, Ulrich A. Schatz, Pernille M. Torring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch-Andersen, Nathalie Chevalier, Ulrike Dunkhase-Heinl, Martin Fleger, Tobias B. Haack, Stephen Nelson, Sven Potelle, Silvia Radenkovic, Guido T. Bommer, Tags: Report Source Type: research