Abstract

Glycogen Storage Disorder type 1b (OMIM #232220) is a rare autosomal recessive condition of carbohydrate metabolism caused by defective glucose-6-phosphate translocase (G6pT) , a transmembrane endoplasmic reticulum transporter encoded in the G6PT1 gene (11q23.3). Hepatotomegaly , severe hypoglycaemia, and neutropenia are distinctive features of GSD1b (1) . Severe chronic neutropenia is frequently associated with increased risk of infection, oral lessions , perianal abscesses . Neutropenia is caused by accumulation of 1,5- anhydroglucitol-6-phosphate (1,5AG6P) in the neutrophils of patients with GSD1b lacking functioning G6PT. Sodium glucose cotransporter 2 (SGLT2) such as e mpagliflozin or dapagligflozin are oral antidiabetic drugs that inhibit renal glucose reabsorption by inhibiting the renal sodium glucose reabsorption Glucosuria decreases renal 1,5AG and lower its serum concentration, which leads to a reduction of 1,5AG6P in neu trophils. Here w e report the experience of UK centres in treating GSD1b patients with neutropenia with SGLT2 inhibitors.