Lysosomal storage disorder linked to α-mannosidosis enzyme deficiency
Symptoms Retarded growth, skeletal deformities, apathy, deafness, limb coordination disorder, tremors.
Gene involved MAN2B1
Mutation tested c.1748delCCAG
Transmission mode : Autosomal recessive Age of onset : Between 2 and 6 months old
Publication : Berg et al. (1997). Purification of feline lysosomal alpha-mannosidase, determination of its cdna sequence and identification of a mutation causing alpha-mannosidosis in Persian cats.