Figure 2

A flow diagram summarising proposed mechanisms of haematological features of G6PC3 deficiency. G6PC3 deficiency leads to decreased cytoplasmic glucose and glucose-6-phosphate levels [31] and ER stress and activation of protein like ER-kinase (PERK) [9, 29]. The lower levels of glucose possibly lead to activation of GSK-3β and phosphorylation of Mcl-1. Activation of these pathways contributes to apoptosis of the cells (this part of the pathway is shown in blue boxes). G6PC3 deficiency also results in aberrant glycosylation of a NADPH oxidase subunit, gp91phox (shown in green box). The precise mechanism of aberrant glycosylation is not clear but may be mediated by perturbation of the Leloir pathway of galactose metabolism (shown in faded green). The final effect of these dysfunctions is maturation arrest of neutrophils, neutropenia and diminished respiratory burst (shown in red boxes).