Lysosomal storage disorder linked to a deficiency of the arylsulfatase B enzyme
Symptoms Dwarfism and facial dysmorphia, hindlimb paresis or paralysis due to spinal cord compression, bilateral pain at flection and extension of the joins, multifocal neurologic deficits, corneal clouding and retinal atrophy.
Gene involved ARSB
Mutation tested c.1427T>C
Transmission mode : Autosomal recessive Age of onset : Between 6 and 8 weeks old
Publication : Yogalingam et al. (1996). Feline mucopolysaccharidosis type VI - characterization of recombinant n-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease.