Disease overview

Mucopolysaccharidoses are a group of metabolic disorders characterized by a deficiency in the production or functioning of lysosomal enzymes required for digestion of glycosaminoglycans (GAGs). Accumulation of GAGs results in cellular damage.

Gene name

ARSB (associated with Mucopolysaccharidosis VI); GUSB (associated with Mucopolysaccharidosis VII; IDUA (associated with Mucopolysaccharidosis I)

Inheritance

Autosomal recessive; Some ARSB mutations (L476P) associated with Mucopolysaccharidosis VI confer stronger phenotype than others (D520N)

Signs and symptoms

Signs and symptoms differ depending on the subtype of mucopolysaccharidosis. They may include bone and joint deformities, upper airway obstruction, hepatosplenomegaly, cornea clouding, cognitive impairment, cardiac disease, spinal cord compression, locomotor difficulties, growth retardation, and even facial dysmorphia.

How is it diagnosed

Diagnosis begins with a detailed history. Cats with mucopolysaccharidosis begin to show signs at 6-8 weeks old. These signs typically become worse around 8 months of age. Cats can be tested for the presence of the genetic mutation once they show signs.

Breeds at higher risk

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Citations

https://pubmed.ncbi.nlm.nih.gov/27370326/ https://pubmed.ncbi.nlm.nih.gov/12892300/ https://pubmed.ncbi.nlm.nih.gov/10366443/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.