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Mucopolysaccharidosis (Huntaway Type) Overview

Mucopolysaccharidosis (Huntaway Type)
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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: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

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,