Disease overview

Mucopolysaccharidoses are a group of inherited metabolic diseases characterized by the accumulation of long chains of sugar molecules called glycosaminoglycans (GAG). These diseases are caused by the absence or malfunctioning of lysosomal enzymes, which have the important function of digesting and removing waste from the cells. GAG is essential to the proper functioning of the skeletal system; however, when these large molecules aren't broken down by lysosomes, they accumulate in the cells and cause joint and bone abnormalities, as well as issues in other areas of the body.

Gene name

SGSH

Inheritance

Autosomal recessive

Signs and symptoms

Signs vary widely between different forms of mucopolysaccharidoses. In mucopolysaccharidosis IIIA, however, affected dogs typically exhibit more isolated neurologic signs such as abnormal eye movements, tremors, and ataxia (abnormal gait and unsteadiness). Signs typically develop by 3 years of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history. Labwork and other diagnostics are needed to determine the causes of the wide range of symptoms associated with this disease. MPS may be suspected based on clinical signs, white blood cell granules, and a positive urine MPS spot test. Genetic testing can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Wire Haired Dachshund, New Zealand Huntaway

Citations

Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB. Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics. 2000 Aug 15;68(1):80-4. doi: 10.1006/geno.2000.6275. PMID: 10950929.

Yogalingam G, Pollard T, Gliddon B, Jolly RD, Hopwood JJ. Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics. 2002 Feb;79(2):150-3. doi: 10.1006/geno.2002.6699. PMID: 11829484.

Disclaimer

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