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Article

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.

Journal of inherited metabolic disease - 1 Jul 2022

Boulanger Cécile, Stephenne Xavier, Diederich Jennifer, Mounkoro Pierre, Chevalier Nathalie, Ferster Alina, Van Schaftingen Emile, Veiga-da-Cunha Maria

Abstract excerpt

Neutropenia and neutrophil dysfunction found in deficiencies in G6PC3 and in the glucose-6-phosphate transporter (G6PT/SLC37A4) are due to accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), an inhibitor of hexokinase made from 1,5-anhydroglucitol (1,5-AG), an abundant polyol present in blood. Lowering blood 1,5-AG with an SGLT2 inhibitor greatly improved neutrophil counts and function in G6PC3-deficient...

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Identifiers

PMID: 35506446
DOI: 10.1002/jimd.12509
PMCID: PMC9540799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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