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Mucopolysaccharidosis VI (Miniature Pinscher Type)

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Test Overview:

Mucopolysaccharidosis VI is a lysosomal storage disorder whereby mucopolysaccharides accumulate in the lysosomes. The mucoplysaccharides accumulation leads to organ and cellular dysfunctions. This disease is a result of the N-acetylgalactosamine 4-sulphate enzyme deficiency. The mutation of this disease leads to the premature N-acetylgalactosamine 4-sulphate enzyme. Signs of this disease can include facial dysmorphia, growth retardation, skeletal deformities and loud breathing.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

ARSB

Variant Detected:

c.295C>T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is carrier for Mucopolysaccharidosis VI disease.

Research Citation(s):

Wang, P., Margolis, C., Lin, G., Buza, E.L., Quick, S., Raj, K., Han, R., Giger, U. : Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. Vet Pathol 55:286-293, 2018. Pubmed reference: 29157190

Associated Breed(s):

Miniature Pinscher ,

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