Mucopolysaccharidosis VI / MPS VI 2 variants (ARSB-related) - Cat

Mucopolysaccharidosis VI in cats

This genetic test examines two ARSB variants for mucopolysaccharidosis VI in cats: the severe variant c.1427T>C and the milder variant c.1558G>A. MPS VI is also known as Maroteaux-Lamy syndrome or arylsulfatase B deficiency. The severe L476P variant causes ARSB deficiency when a cat carries two copies.

Important nuance

D520N does not cause severe MPS VI on its own. It becomes important mainly when found together with L476P, because the L476P/D520N combination can produce a milder MPS VI form with joint disease. The two variants are therefore interpreted together.

Why this test is useful

• The test separates the severe L476P variant from the milder D520N variant.
• The result helps plan carrier status and risk combinations correctly.
• Combination information prevents D520N alone from being overinterpreted.

The trait is inherited as autosomal recessive, but the two variants do not have the same clinical meaning.