Alpha-mannosidosis / AMD (MAN2B1-related) - Cat

About alpha-mannosidosis

Alpha-mannosidosis (AMD) is a severe inherited lysosomal storage disease in cats. It results from deficient alpha-mannosidase activity, an enzyme needed to break down mannose-rich glycoproteins.

Accumulation of storage material mainly affects the central nervous system and general development. Affected cats can develop progressive ataxia, tremors, loss of coordination, growth delay, skeletal and ocular changes, behavioural changes and eventually paralysis.

What does this analysis test?

This DNA test detects the MAN2B1 variant c.1749_1752delCCAG. The trait is autosomal recessive: carriers have one copy, affected cats have two copies.

Practical value of this test

• Carrier detection: especially useful in Persian cats and related lines.
• Targeted breeding selection: prevents combinations that can produce kittens with two copies.
• Clear risk assessment: separates clear animals, carriers and affected genotypes.