Mucopolysaccharidosis Type VI
A rare but severe inherited metabolic disorder leading to skeletal deformities and organ dysfunction.
Detailed Description
Mucopolysaccharidosis Type VI (MPS VI) is a lysosomal storage disease caused by deficiency of the enzyme arylsulfatase B, resulting in accumulation of glycosaminoglycans in tissues. Affected dogs develop skeletal abnormalities, corneal clouding, and organ enlargement, with progressive worsening.
Common Symptoms
- Stunted growth
- Skeletal deformities
- Corneal clouding
- Joint stiffness
- Heart murmurs
Management Options
- Supportive care
Frequently Asked Questions
Is there a cure for MPS VI?
No, only supportive care is available.
How is it inherited?
Autosomal recessive; both parents must carry the gene.
Can it be prevented?
Yes, by genetic testing and not breeding carriers.
What are early signs?
Stunted growth and joint stiffness in puppies.
How common is it?
Very rare, but documented in the breed.
Condition Details
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Typical Age of Onset
By 6 months
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Testing Available
Yes
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Diagnosing Methods
Genetic testing; Enzyme assays; Clinical signs; Radiographs
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Preventative Measures
Genetic testing of breeding stock
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Related Conditions
Other lysosomal storage diseases, Rickets