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Caprine beta-mannosidosis: phenotypic features.

K Kumar, M Z Jones, J G Cunningham

    The Veterinary Record
    |March 22, 1986
    PubMed
    Summary
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    Caprine beta-mannosidosis presents a distinct set of clinical signs at birth in goats. These include neurological deficits, motor impairments, and physical abnormalities, affecting affected newborns.

    Area of Science:

    • Veterinary Neurology
    • Animal Genetics
    • Lysosomal Storage Diseases

    Background:

    • Caprine beta-mannosidosis is a rare inherited lysosomal storage disease.
    • It results from a deficiency in the enzyme beta-mannosidase.
    • This deficiency leads to the accumulation of specific oligosaccharides in tissues.

    Purpose of the Study:

    • To characterize the clinical features of caprine beta-mannosidosis.
    • To describe the phenotype of affected newborn goats.
    • To establish a baseline for understanding the disease's presentation.

    Main Methods:

    • Clinical evaluation of 10 newborn goats with caprine beta-mannosidosis.
    • Assessment of a stillborn goat and a goat fetus.
    • Observation and documentation of phenotypic abnormalities.

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    Main Results:

    • Affected goats exhibited an inability to rise, intention tremors, and pendular nystagmus.
    • Clinical signs included deafness, Horner's syndrome, carpal contractures, and hyperextended pastern joints.
    • Other findings were thickened skin, dome-shaped skulls, and decreased muscle mass.

    Conclusions:

    • Caprine beta-mannosidosis presents a consistent phenotype at birth in affected goats.
    • The observed clinical features provide a recognizable profile for diagnosis.
    • Early identification of these signs is crucial for management and breeding programs.