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Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
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Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
General information
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. A variant of the disease, type VII (MPS VII, also known as Sly Syndrome) is caused by a recessive mutation to the gene GUSB. The specific variant analysed in this test is found in the German Shepherd. A related variant is also found in the Brazilian Terrier.
Clinical features
Affected dogs have symptoms such as ataxia, head tremors, swaying and abnormal eye movement. The clinical signs develop around the age of 3 years.
Additional information
References
Pubmed ID: 9521879
Omia ID: 667