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Beta-Mannosidosis is a metabolic disease that causes neurological defects such as lack of coordination, seizures and deafness.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 32 |
| Mutation | c.560T>A |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
Beta-Mannosidosis is a metabolic disease that causes neurological defects such as lack of coordination, seizures and deafness. This variant of the disorder, found in the German Shepherd, is caused by a recessive mutation to the gene MANBA. The disease is severe, and affected dogs are typically euthanized on humane grounds.
Características clínicas
Affected puppies start presenting at approximately 8 weeks of age with reduced growth, deafness, stiff limbs, ataxia (loss of coordination), difficulty running and navigating obstacles. The disease seems to cause pain, leading to reluctance to move. Due to poor quality of life, euthanasia is typically elected for by 8 months of age.
Información adicional
Referencias
Pubmed ID: 30983534
Year published: 2019
Omia ID: 626
Omia variant ID: 1072