Improved inflammatory bowel disease wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

摘要

Mechanism of neutropenia in glycogen storage disease type 1b. 1,5-anhydroglutitol, a non-degradable glucose analogue, is phosphorylated to 1,5-anhydroglucitol-phosphate. This metabolite is usually detoxified by transport to the endoplasmic reticulum by the glucose-6-phosphate transporter (G6PT) and subsequent dephosphorylation by the enzyme G6PC3. In patients with GSD Ib who are deficient in G6PT, 1,5-anhydroglucitol-phosphate accumulates in toxic concentrations. This metabolite is a strong inhibitor of hexokinases resulting in depletion of the intracellular glucose-6-phophate pool that is vital for normal survival and function of the neutrophils