Glycogen Branching Enzyme Deficiency (GBED)
GBED
Glycogen Branching Enzyme Deficiency (GBED) is a fatal genetic condition in Quarter Horses and related breeds. Horses affected by the disorder lack a functional glycogen branching enzyme which is necessary to produce the branched sugar storage molecule glycogen. Affected horses are unable to store sugar leading to impaired tissues like brain, heart and skeletal muscles that rely on glycogen for energy. Affected animals are typically aborted or stillborn with surviving foals typically dying or being euthanized within a few months due to severe muscle weakness.
Reading Your Results
A. (CLEAR/NORMAL):
These horses have two copies of the normal gene and will neither develop Glycogen Branching Enzyme Deficiency nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These horses have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Glycogen Branching Enzyme Deficiency and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These horses have two copies of the mutation associated with Glycogen Branching Enzyme Deficiency which typically results in glycogen storage disease and aborted or stillborn animals.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
GBE1
Chromosome
Ch. 26
Mutation
c.102C>A; p.Y34Stop
Publication:
Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM, Mickelson JR. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome. 2004;15(7):570-577. [PubMed: 15366377]
