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A deficiency in the glycogen branching enzyme (GBED) is responsible for a recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses and American Paint Horses named GSD IV.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 26 |
| Mutation | c.102C>A |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GSD IV |
General information
A deficiency in the glycogen branching enzyme (GBED) is responsible for a recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses and American Paint Horses named GSD IV. A causual mutation is found in the GBE1 gene.
Clinical features
This disease leads to stillbirths and sometimes in late term abortion, cardiac or respiratory failure, seizures and muscle weakness. Affected horses often die within the first half year of life, and for surviving foals, euthanasia may be desirable due to poor quality of life.
Additional information
References
Pubmed ID: 15366377
Year published: 2004
Omia ID: 420
Omia variant ID: