Disease overview

Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by the improper degradation and accumulation of long chains of sugar molecules called glycosaminoglycans (GAG). This occurs as a result of the absence or malfunctioning of lysosomal enzymes, which have the important function of digesting and removing waste from the cells. The buildup of GAG in dogs causes abnormalities in the joints, bones, and other organs of the body. Mucopolysaccharidosis (MPS) VI is also known as Maroteaux-Lamy Syndrome.

Gene name

ARSB

Inheritance

Autosomal recessive

Signs and symptoms

Signs vary widely between different forms of Mucopolysaccharidoses (MPS). Dogs with MPS are usually diagnosed between two and five months of age, though progressive symptoms are typically apparent in the first month of life. The most common symptoms can include slow growth, dwarfism, large head, weakness in the hind legs and/or deformed legs, unusually broad chest, corneal clouding and/or ocular lesions, and liver and/or heart complications.

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

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Citations

Raj K, Berman-Booty L, Foureman P, Giger U. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Anim Genet. 2020 Dec;51(6):982-986. doi: 10.1111/age.13005. Epub 2020 Sep 28. PMID: 32985704; PMCID: PMC8008615.

Wang P, Margolis C, Lin G, Buza EL, Quick S, Raj K, Han R, Giger U. Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. Vet Pathol. 2018 Mar;55(2):286-293. doi: 10.1177/0300985817732115. Epub 2017 Nov 20. PMID: 29157190; PMCID: PMC7879606.

Jolly RD, Hopwood JJ, Marshall NR, Jenkins KS, Thompson DJ, Dittmer KE, Thompson JC, Fedele AO, Raj K, Giger U. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J. 2012 May;60(3):183-8. doi: 10.1080/00480169.2011.642791. Epub 2012 Feb 14. PMID: 22329490; PMCID: PMC3401909.

Disclaimer

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