Globoid Cell Leukodystrophy (GCL, Krabbes disease) – Irish Setter
Kodas: H192
Short description
Globoid Cell Leukodystrophy (GLD) also known as Krabbe's Disease is a severe neurological disorder in dogs.
General information
Globoid Cell Leukodystrophy (GLD) also known as Krabbe’s Disease is a severe neurological disorder in dogs. It is caused by an autosomal recessive mutation in the galactosylceramidase (GALC) gene that leads to a deficiency of the enzyme galactocerebrosidase. This enzyme is active in the lysosomes (part of an animal’s cell) and is crucial for digesting and removing of waste in the cells. Due to the mutation, toxic substances accumulate, causing damage to the nervous system, particularly the brain and spinal cord. The mutation is found in the Irish Setter.
Additionally, a closely related variant has been observed in the Cairn Terrier and West Highland White Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | GALC |
| Chromosome | 8 |
| Mutation | c.790_791insN[78] |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Symptoms often appear between 6 months and 1 year of age and include behavioural changes, muscle weakness, ataxia (lack of coordination), seizures, vision problems, abnormal gait, and muscle wasting. The disease is progressive and fatal, often leading to euthanasia within 10 months due to severe neurological degeneration.
References
Pubmed ID: 16490723
Year published: 2006
Omia ID: 578
Omia variant ID:
Turnaround information
- 10 working days