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

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

Research output: Contribution to journalArticlepeer-review

Abstract

Avoidance 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.

Original languageEnglish
Article number104518
JournalEuropean Journal of Medical Genetics
Volume65
Issue number6
DOIs
StatePublished - Jun 2022

Keywords

  • Exome sequencing
  • Glycogen storage disease
  • Sucrase isomaltase deficiency
  • Uncooked cornstarch

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