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Mucopolysaccharidosis Type I

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Test Overview:

Mucopolysaccharidosis Type I (MPSI) affects cats and is an inherited lysosomal storage disorder. Cats who are affected with this disorder have insufficient activity of the alpha-L-iduronidase enzyme. This enzyme is responsible for the break down of excessive glycosaminoglycans (GAGs). Glycosaminoglycans are a crucial part of connective tissues throughout the cats body. Affected cats will have an accumulation of the excessive GAGs in their cells, resulting in abnormal growth and function for many of their organ systems. Signs of this disorder will be a broad face with depressed nasal bridge, progressive lameness, corneal clouding, small ears and multiple bone dysplasia with a shortened lifespan.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

IDUA

Variant Detected:

c.3 bp del c.1107-1109 (tandem repeat)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. J Am Vet Med Assoc. 1979 Aug 15;175(4):384-7. PubMed PMID: 115818 PubMed: 115818 He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab. 1999 Jun;67(2):106-12. PubMed PMID: 10356309 PubMed: 10356309

Associated Breed(s):

Domestic Medium / Long Hair, Domestic Short Hair,
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