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Mucopolysaccharidosis (MPS) is a group of metabolic disorders characterized by enzymatic deficiencies and glycosaminoglycan (GAG) digestion 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 group of metabolic disorders characterized by enzymatic deficiencies and glycosaminoglycan (GAG) digestion issues. Mucopolysaccharidosis type VII (MPS VII) specifically, is a rare, progressive, autosomal recessive disorder affecting the breakdown of sugar molecules in cat tissues. This is due to a mutation in the GUSB gene, which lead to a deficiency of the enzyme beta-glucuronidase and an accumulation of mucopolysaccharides in tissues and organs.
Clinical signs typically appear around three months of age and depending on the severity of symptoms, affected animals have to be euthanized by six months due to the progression of the disease.
Caractéristiques cliniques
Affected cats may exhibit a range of symptoms, including skeletal abnormalities, growth retardation, respiratory issues, joint stiffness, corneal cloudiness, and neurological problems. The severity of MPS VII can vary, with some cats showing mild symptoms while others may experience more severe effects on their health and quality of life. Unfortunately, there is currently no cure for MPS VII in cats. Treatment focuses on managing symptoms and providing supportive care to improve the cat's comfort and well-being. Early diagnosis and intervention can help slow the progression of the disease and improve the cat's quality of life.
Additional Information
Références
Pubmed ID: 10366443
Omia ID: 667