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Mucopolysaccharidosis I (Boston Terrier Type)*

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Test Overview:

Mucopolysaccharidosis I (Boston Terrier Type) affects dogs and is an inherited Lysosomal Storage Disorder. Dogs affected with this disorder have insufficient activity of the alpha-L-iduronidase enzyme, which is responsible for the breaking down of glycosaminoglycans (GAGs). GAGs are an important component of tissues throughout the body. In affected dogs there is an accumulation of the breakdown products in cells, which causes abnormal growth and function of many different organ systems. Affected dogs (around 12 months of age) will typically present with signs of neurological disease, including Ataxia and abnormal mentation. Other features of the disease can include joint laxity, cloudy eyes, a large liver and abnormal head shape. Affected dogs are often humanely euthanised due to disease progression.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

IDUA

Variant Detected:

chr3:92143164 (canFam4): -/GGGGGCCG

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

Recommended Screening:

Genetic testing of the IDUA gene will reliably determine if a dog is a genetic carrier of Mucopolysaccharidosis I (Boston Terrier Type).

Research Citation(s):

Dierenfeld AD, McEntee MF, Vogler CA, Vite CH, Chen AH, Passage M, Le S, Shah S, Jens JK, Snella EM, Kline KL, Parkes JD, Ware WA, Moran LE, Fales-Williams AJ, Wengert JA, Whitley RD, Betts DM, Boal AM, Riedesel EA, Gross W, Ellinwood NM, Dickson PI. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med. 2010 Dec 1;2(60):60ra89. [PubMed: 21123810] Mansour TA, Woolard KD, Vernau KL, Ancona DM, Thomasy SM, Sebbag L, Moore BA, Knipe MF, Seada HA, Cowan TM, Aguilar M, Titus Brown C, Bannasch DL. Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. Sci Rep. 2020 Apr 16;10(1):6558. [PubMed: 32300136] Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics. 1992 Nov; 14(3):763-8. [PubMed: 1339393] Shull RM, Helman RG, Spellacy E, Constantopoulos G, Munger RJ, Neufeld EF. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol. 1984 Mar;114(3):487-95. PubMed PubMed: 6320652 [PubMed: 6320652] Shull RM, Munger RJ, Spellacy E, Hall CW, Constantopoulos G, Neufeld EF. Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol. 1982 Nov;109(2):244-8. PubMed: 6215865 [PubMed: 6215865] Spellacy E, Shull RM, Constantopoulos G, Neufeld EF. A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A. 1983 Oct;80(19):6091-5. PubMed: 6412235 [PubMed: 6412235]

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