Sanfilippo Syndrome Type A / Mucopolysaccharidosis IIIA (Dachshund Type) Overview

Sanfilippo Syndrome Type A / Mucopolysaccharidosis IIIA (Dachshund Type)
US$ 94.00 RRP

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

Gene: N-sulfoglucosamine sulfohydrolase (SGSH) on Chromosome 9

Variant Detected: Nucleotide Deletion c.737–739delCCA p.Thr246del

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

Mode of Inheritance: Autosomal Recessive

Test Overview: 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.

Research Citation(s): Aronovich EL, et al. Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. (2000) Genomics 68(1);80-84.

Associated Breed(s): Dachshund ,  Miniature Dachshund Long Hair,  Miniature Dachshund Smooth Hair,  Miniature Dachshund Wire Hair,  Mixed Breed,  Miniature Dachshund,  Miniature Dachshund Short Hair,