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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

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

Fig. 1

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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172