Caprine beta-mannosidosis: phenotypic features

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.

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.