Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
| dc.contributor.author | Bassam Abu-Libdeh | |
| dc.contributor.author | Et al. | |
| dc.date.accessioned | 2025-01-20T10:10:33Z | |
| dc.date.available | 2025-01-20T10:10:33Z | |
| dc.date.issued | 2022-05-01 | |
| dc.description.abstract | Avoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treat-ment of Glycogen Storage Disease type Ia (GSD-Ia). However, GSD-Ia patients who despite optimal dietary treatment show poor glycemic control and are intolerant to cornstarch, present a complex clinical challenge. We pursued Whole Exome Sequencing (WES) in three such unrelated patients, to both confirm a molecular diagnosis of GSD-Ia, and seek additional variants in other genes (e.g. genes associated with amylase production) which may explain their persistent symptoms. WES confirmed the GSD-Ia diagnosis, with all three probands harboring the homozygous p.R83C variant in G6PC. While no other significant variants were identified for patients A and B, a homozygous p.G276V variant in the SI gene was detected in patient C, establishing the dual-diagnosis of GSD-Ia and Sucrase-Isomaltase Deficiency. To conclude, we suggest that WES should be considered in GSD-Ia patients who show persistent symptoms despite optimal dietary management. | |
| dc.description.sponsorship | The authors wish to thank the patients and their families for their kind cooperation, as well as Prof. Orly Elpeleg, Department of Genetics, Hadassah Medical Center, for her kind assistance with Whole Exome Sequencing of family C. | |
| dc.identifier.uri | https://dspace.alquds.edu/handle/20.500.12213/9694 | |
| dc.language.iso | en | |
| dc.title | Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution? | |
| dc.type | Article |