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Sanfilippo Syndrome Type A / Mucopolysaccharidosis IIIA (Dachshund Type)

Description

Mucopolysaccharidosis (MPS) IIIA (dachshund type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of tissues throughout the body. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 3 years of age with neurologic deterioration.

Recommended Breeding

Diseases

Sanfilippo Syndrome Type A / Mucopolysaccharidosis IIIA (Dachshund Type)

$ 50.00

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Associated Breed(s):

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Labels:

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

N-sulfoglucosamine sulfohydrolase (SGSH) on Chromosome 9

Variant Detected:

Nucleotide Deletion c.737–739delCCA p.Thr246del

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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