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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
Les chiens atteints présentent des symptômes tels que l’ataxie, les tremblements de la tête, le balancement et les mouvements oculaires anormaux. Les signes cliniques se développent vers l’âge de 3 ans.
Additional Information
Références
Pubmed ID: 9521879
Omia ID: 667