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Mucopolysaccharidosis VII (MPS VII) is a hereditary lysosomal storage disease and belongs to a group of genetic disorders of glycosaminoglycan catabolism resulting in lysosomal storage.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Mucopolysaccharidosis VII (MPS VII) is a hereditary lysosomal storage disease and belongs to a group of genetic disorders of glycosaminoglycan catabolism resulting in lysosomal storage. Affected dogs have insufficient activity of the enzyme heparan N-sulfatase which contributes to breaking down heparan sulfate.
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
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