Mannosidosis

General Submission Form

Description:
Mannosidosis is a progressive storage disease caused by a deficiency of the enzyme alpha mannosidase in cats and is inherited by an autosomal recessive mode. The disease results in massive storage of sugars (oligosaccharides) in lysosomes of neuronal tissue and other cells Clinical signs occur in the first month of life and are progressive, leading to death by a few months. Although the deficiency can be determined by enzyme measurements in blood, there is a DNA test for one specific disease-mutation in several Persian and domestic shorthair/longhair cats.

Clinical Signs:
Beside failure to thrive and growth retardation, clinical signs include facial dysmorphia, ataxia, head and body tremors, skeletal deformities, behavioral changes, seizures and visual deficits. Cataracts and organomegaly may also be noted. Cytoplasmic vacuolization may be recognized in white blood cells.

Affected Breeds:
Persian
Domestic shorthair/longhair

Required Samples:
EDTA Blood, 1-2 mL or
2 buccal swabs

Price: $75 each