Globoid cell leucodystrophy (Krabbe disease)
LABOKLIN Service ID: 8007
Globoidcell leucodystrophy is a lipid storage disorder with progressive degeneration of the white substance of the central nervous system (CNS). The disease is caused by a genetically caused lack of the enzyme galactocerebrosid betagalactosidase. This enzyme is responsible for the lysosomal metabolism of certain galactolipids. Due to the lack of enzyme, these lipids are deposited in the CNS particularly in the multi-nucleated giant cells (globoidcells). The globoidcell leucodystrophy manifests itself in affected dogs at the age of 1-3 months, beginning with ataxia and paresis of the hind legs. During the progress of the disease, muscular atrophy and neurological degeneration oocur. Due to the lack treatment possibilities, the affected animals are usually euthanased after 10 months at the latest.
| Method | sequencing (Irish Red Setter); TaqMan SNP assay (Cairn Terrier, West Highland White Terrier) |
| Breed list | Cairn Terrier, Irish Red Setter, West Highland White Terrier |
| Heredity | autosomal recessive |
| Duration | 1 - 2 weeks after arrival of the sample in the lab (Irish Red Setter), 3 - 5 days after arrival of the sample in the lab (Cairn Terrier, West Highland White Terrier) |