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H788

Beta Mannosidosis is a metabolic disease that causes neurological defects such as lack of coordination, seizures and deafness.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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 is painful and causes reluctance to move. Due to poor quality of life, euthanasia is typically elected for by 8 months of age.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 30983534

Omia ID: 626

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