Mucopolysaccharidosis (Huntaway Type)

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

SGSH gene

Variant Detected:

Nucleotide Insertion c.708-709insA p.frameshift and immediate chain termination at position 228

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

Research Citation(s):

Yogalingam G, Pollard T, Gliddon B et al. Identification of a mutation causing mucopolysaccharidosis type IIA in New Zealand Huntaway dogs. Genomics. 2002 Feb;79(2):150-153.

Associated Breed(s):

Huntaway, Mixed Breed,