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Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Molecular diagnosis & therapy - 1 Sept 2025

Milosevic Maja Djordjevic, Skakic Anita, Kecman Bozica, Stankovic Sara, Kovacevic Ivona, Pavlovic Sonja, Stojiljkovic Maja

Abstract excerpt

BACKGROUND: Glycogen storage disease type 1b (GSD 1b) is an ultra-rare disease worldwide, whereas in Serbia it has an unexpectedly high prevalence. GSD 1b is the result of variants in the SLC37A4 gene and reduced function of the enzyme glucose 6 phosphate translocase (G6PT). In addition to the classic symptoms of GSD 1a, patients with GSD 1b have neutropenia and impaired neutrophil function. METHODS: The genotype...

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Identifiers

PMID: 40536628
DOI: 10.1007/s40291-025-00795-5
PMCID: PMC12436581

Genes

SLC37A4

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