Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?

Eur J Med Genet. 2022 May 9:104518. doi: 10.1016/j.ejmg.2022.104518. Online ahead of print.ABSTRACTAvoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treatment 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.PMID:35550444 | DOI:10.1016/j.ejmg.2022.104518

Source: European Journal of Medical Genetics - May 13, 2022 Category: Genetics & Stem Cells Authors: Or Steg Saban Ben Pode-Shakked Bassam Abu-Libdeh Maya Granot Galia Barkai Yael Haberman Inon Roterman Avishay Lahad Dror S Shouval Batia Weiss Dina Marek-Yagel Ortal Barel Nurit Loberman-Nachum Smadar Abraham Raz Somech David A Weinstein Yair Anikster Source Type: research