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Zhen X, Betti MJ, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon E, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency. MedRxiv : the preprint server for health sciences. 2024 May 14.
Abstract
G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital neutropenia. It is driven by the intracellular accumulation of a metabolite named 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis.