Objective: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze SLC37A4 gene mutations in Chinese GSDIb patients and to investigate the relationship between its genotypes and clinical manifestations.
Methods: All exons and their flanking introns of SLC37A4 gene in 28 Chinese children with a primary diagnosis of GSDIb were screened by PCR combined with direct DNA sequencing to detect SLC37A4 gene mutations.
Results: Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children, i.e., p.Gly149Glu (9/13, 69%), p.Gly115Arg (1/13, 8%), p.Pro191Leu (1/13, 8%), c.959-960 insT (1/13, 8%) and c.870+5G>A (1/13, 8%).
Conclusions: In this study, c.959-960 insT is a novel mutation and p.Gly149Glu is the most common mutation. p.Gly149Glu may be associated with severe infections in children with GSDIb.
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Article Synopsis
- Glycogen storage disease type Ib (GSD Ib) is a rare genetic condition that leads to severe health issues like low blood sugar and neutropenia due to mutations in the SLC37A4 gene, making traditional treatments ineffective for neutropenia.
- Recent findings on the condition allowed for the use of the SGLT2 inhibitor empagliflozin, which has shown promise in improving neutrophil function and overall health in GSD Ib patients since its introduction in 2020.
- A study of 35 pediatric GSD Ib patients revealed that empagliflozin treatment is effective and safe in managing the disease, although patients should be monitored for urinary infections and hypoglycemia as potential side effects.
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