Metabolic Disorders Due to Lysomal Enzyme Deficiency in Cats
Mucopolysaccharidoses are a group of metabolic disorders characterized by the accumulation of GAGs (glycosaminoglycans, or mucopolysaccharides) due to the impaired functions of lysosomal enzymes. It is the mucopolysaccharides which help in building bones, cartilage, skin, tendons, corneas, and the fluid responsible for lubricating joints.
Domestic shorthair and Siamese cats are predisposed to mucopolysaccharidoses.
Symptoms and Types
- Severe bone disease
- Degenerative joint disease (DJD), including partial dislocation of hip joint
- Facial structural deformity
- Enlarged liver
- Eye cloudiness
Mucopolysaccharidoses is a genetic abnormality. However, inbreeding increases the risk, especially if the defective gene is present in the family.
You will need to give a thorough history of your cat’s health, including the onset and nature of the symptoms. He or she will then perform a complete physical examination, as well as a biochemistry profile, urinalysis, and complete blood count (CBC). These tests may reveal valuable information for initial diagnosis, including the presence of characteristic granules within neutrophils and monocytes (types of white blood cells). Your pet’s veterinarian will also take a sample from other body sites and organs -- such as the liver, bone marrow, joints, and lymph nodes -- for further analysis.
Definitive diagnosis, however, is typically made by measuring the lysosomal enzyme levels in blood or liver. Bone X-rays, meanwhile, will reveal decreased bone density and other bone- and joint-related abnormalities.