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Globoid Cell Leukodystrophy (GLD) also known as Krabbe's Disease is a severe neurological disorder in dogs.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Información específica de la prueba
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.
Características clínicas
Los síntomas suelen aparecer entre los 6 meses y 1 año de edad e incluyen cambios de comportamiento, debilidad muscular, ataxia (falta de coordinación), convulsiones, problemas de visión, marcha anormal y atrofia muscular. La enfermedad es progresiva y mortal, y a menudo conduce a la eutanasia dentro de los 10 meses debido a una degeneración neurológica grave.
Información adicional
Referencias
Pubmed ID: 16490723
Omia ID: 578