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.

Gene name

IDUA

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

Faller KME, Ridyard AE, Gutierrez-Quintana R, Rupp A, Kun-Rodrigues C, Orme T, Tylee KL, Church HJ, Guerreiro R, Bras J. A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I. J Vet Intern Med. 2020 Sep;34(5):1813-1824. doi: 10.1111/jvim.15868. Epub 2020 Aug 12. PMID: 32785987; PMCID: PMC7517864.

Mansour TA, Woolard KD, Vernau KL, Ancona DM, Thomasy SM, Sebbag L, Moore BA, Knipe MF, Seada HA, Cowan TM, Aguilar M, Titus Brown C, Bannasch DL. Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. Sci Rep. 2020 Apr 16;10(1):6558. doi: 10.1038/s41598-020-63451-4. PMID: 32300136; PMCID: PMC7162951.

Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics. 1992 Nov;14(3):763-8. doi: 10.1016/s0888-7543(05)80182-x. PMID: 1339393.

Disclaimer

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