Glycogen Storage Disease VII (GSD VII)
Phosphofrutokinase Deficiency (PFK)
Glycogen Storage Disease VII (GSD VII)
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 Type VII: exercise intolerance, muscle cramps, occasional hemolytic crisis
Genetics
Inheritance
AR
OMIA
000421
OMIA Variant
000045
OMIA URL
https://omia.org/OMIA000421/9615/
OMIN
232800
Gene
PFKM
Variants
c.550C>T; p.(R184W); c.2228G>A
Variants Comments
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
Direct Mutation
Connections
- Updated