Mucopolysaccharidosis I / MPS I (IDUA-related) - Cat

Mucopolysaccharidosis I in cats

This genetic test detects the IDUA variant c.1041_1043del that causes mucopolysaccharidosis type I in cats. The condition is also known as MPS I, IDUA deficiency or, in broader medical terminology, Hurler syndrome. Reduced alpha-L-iduronidase activity leads to accumulation of glycosaminoglycans in cells and tissues.

What does MPS I mean?

Affected cats may develop a broad facial shape, abnormal gait, thickened neck skin, skeletal changes, corneal clouding and sometimes a heart murmur. Because this is an autosomal recessive disorder, carrier combinations are especially important in breeding plans.

Why this test is useful

• The test shows whether the cat is clear, a carrier or genetically affected for the tested IDUA variant.
• Breeders can avoid carrier-to-carrier matings and manage healthy lines more deliberately.
• The result helps interpret family history, related animals and clinical findings more clearly.

The trait is inherited as autosomal recessive: two copies of the variant cause MPS I, while one copy means carrier status.