Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome, MPS VI
A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. Mucopolysaccharidosis VI (MPS VI) is a lysosome disorder in which a specific glycosaminoglycan (GAG) accumulates in lysosomes. This causes progressive health issues including stunted growth, skeletal deformities, and eye problems.
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Signs and symptoms
Affected dogs may display facial, limb, and stature abnormalities. They may experience progressive gait changes and decreased mobility, along with or in addition to joint hyperlaxity (extreme flexibility). They may also develop cloudy eyes.
You may notice the first signs of dwarfism as early as three months of age, and eye abnormalities by seven months of age.Uncover health risks with Embark
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Diagnosis
Your dog's veterinarian may use genetic testing, clinical signs, and history to diagnose this disease. Urinalysis, bloodwork, and radiographs can all be useful tools for making a diagnosis.
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Treatment
Currently, care is mostly supportive in nature.
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What to do if your dog is at risk
Actions
- Many dogs have been able to live for several years with MPS VI, but frank discussions about quality of life are warranted.
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Genetic Information
This variant was first identified in Miniature Pinschers.
This form of MPS VI has an autosomal recessive mode of inheritance; that is, a dog requires two copies of the variant to show signs of the disease from it. Carrier dogs are reported to have intermediate enzyme activity when compared to clear and affected dogs; however, this causes no clinical abnormalities.
Gene names:
ARSB Exon 5 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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