Disorder - Mucopolysaccharidosis I

Organ Systems Involved
Systemic

Alternative disorders described within LIDA

Lysosomal storage disease

Alternative Names
Alpha-L-iduronidase deficiency; Hurler's syndrome; MPS Type I; Lysosomal storage disease

Presenting Signs

Cats with mucopolysaccharidosis I have a deficiency in an enzyme (alpha-L-iduronidase) that is required for the breakdown of large carbohydrates (glycosaminoglycans) in cells. Because these carbohydrates are not broken down, they build up in cells and connective tissue. Consequently permanent organ dysfunction and abnormalities of the bones occur. Common signs of mucopolysaccharidosis I include progressive lameness (particularly of the hind limbs), opacity of the eyes, facial deformities (short, broad face, small ears, flattened nasal bridge), thickened skin over the back of the neck, enlargement of the liver and spleen, and larger than normal body size.

Cats at Risk

Cats deficient in the alpha-L-iduronidase enzyme are predisposed to developing mucopolysaccharidosis I.

Treatment

Medical

PubMed References
Mucopolysaccharidosis I

Contributor
Emma Leary