Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review

Abstract

Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on chromosome 11q23.3. Although the SLC37A4 gene has been identified as the pathogenic gene for GSD1b, the complete variant spectrum of this gene remains to be fully elucidated. In this study, we present three patients diagnosed with GSD1b through genetic testing. We detected five variants of the SLC37A4 gene in these three patients, with three of these mutations (p. L382Pfs*15, p. G117fs*28, and p. T312Sfs*13) being novel variants not previously reported in the literature. We also present a literature review and general overview of the currently reported SLC37A4 gene variants. Our study expands the mutation spectrum of SLC37A4, which may help enable genetic testing to facilitate prompt diagnosis, appropriate intervention, and genetic counseling for affected families.

Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial

“…Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive genetic disease caused by a defect in the SLC37A4 gene encoding the glucose-6-phosphate transporter (G6PT) 1 – 3 . It is characterized by hypoglycaemia, excessive accumulation of liver and kidney glycogen, neutropenia, neutrophil dysfunction, and high susceptibility to various infectious diseases, including recurrent bacterial infections, oral and perianal ulcerations, bloody diarrhoea, abdominal pains, and histological inflammation of the intestinal mucosa; up to 80% of patients with GSD-Ib have evidence of inflammatory bowel disease (IBD) 4 – 7 . IBD was first reported in patients with glycogen storage disease type Ib nearly 40 years ago 8 .…”