Description: Globoid cellular leukodystrophy (Krabbe disease) is a metabolic disease. Lysosomal Storage Disorders are inherited disorders of macromolecular degradation, mostly due to the insufficient activity of lysosomal enzymes. However, it can also be caused by a malfunction of the lysosome transport protein or enzyme activator. Due to the deficiency or insufficient function of these key proteins, metabolic products accumulate in the body. In this case, the disease is caused by a lack of galactocerebrosidase (GALC) activity. GALC is responsible for the lysosomal catabolism of some galactolipids, including galactocerebroside (= galactosylceramide) and psychosine. As a result of insufficient GALC function, galactosylceramide is not properly degraded and accumulates in myelin-producing cells. As myelin forms a protective sheath around nerve cells and ensures the rapid transmission of nerve impulses, its deficit caused by the accumulation of galactosylceramide leads to damage of the nervous system.
The first symptoms start very early, at the age of 1-3 months. Limb trembling appears, followed by muscle atrophy and neurological degeneration of the white matter of the brain and spinal cord. Dogs can live to the age of 8-9 months, but due to unbearable suffering, euthanasia is approached.
Inheritance: autosomal recessive
Mutation: c.473A>C in GALC gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: West Highland White Terrier, Cairn Terrier. This disease less often appears in Beagle, Miniature Poodle, Blue Tick Hound, Pomeranian, Basset, Australian Kelpie and Irish Setter.
Notes: GLD in the Irish Red-White Setter is caused by a different mutation.