Glycogen Storage Disease Type Ia (GSD Ia)
Glycogen Storage Disease Type Ia (GSD Ia)
Discussion
Clinical comments: Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to form I-a is it's generally associated with toy breeds.
Genetics
Inheritance
AR
OMIA
000418
OMIA Variant
000044
OMIA URL
https://omia.org/OMIA000418/9615/
OMIN
232200
Gene
G6PC
Variants
c.450G>C; p.(M121I); c.363G>C
Variants Comments
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
Direct Mutation
Connections
- Updated