P189: A locus-specific database of G6PC1 gene variants associated with glycogen storage disease type Ia

Genetics in Medicine Open 2026 Open access

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Authors: Vanessa Rangel Miller, Heather Ashley Richbourg, Omid Khazaie Japalaghi, Michael Parfenov, Elizabeth Dorn
DOI: 10.1016/j.gimo.2026.103683
Cited by: 0

Abstract

Glycogen Storage Disease type Ia (GSDIa) is a rare, inherited deficiency of glucose-6-phosphatase-α leading to impaired glycogenolysis and gluconeogenesis. This life-threatening, autosomal recessive condition results from pathogenic variants in the glucose-6-phosphatase- α encoding gene, G6PC1. Patients with GSDIa experience severe fasting intolerance with hypoketotic hypoglycemia, lactic acidosis, hyperlipidemia, and hyperuricemia. GSDIa is diagnosed based on clinical presentation, biochemical findings, and two disease-associated variants in the G6PC1 gene.

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders Lysosomal Storage Disorders Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103683–103683
Publication date
1 January 2026
Language
EN