Mucopolysaccharidosis type VI (MPS6)

LABOKLIN Service ID: 8468

Mucopolysaccharidosis Type VI is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). This deficiency is caused by two different mutations in the 4S-gene, resulting in a clinically mild and a severe MPS VI phenotype. Cats which show the severe phenotype exhibit dwarfism and facial dysmorphia due to epiphyseal dysplasia, abnormally low leukocyte 4S/ß-hexosaminidase ratios, dermatan sulfaturia, lysosomal inclusions in most tissues including chondrocytes, corneal clouding, degenerative joint disease and abnormal leukocyte inclusions. Cats with the mild phenotype show similar but milder symptoms and have normal growth and appearance.

Method	sequencing
Breed list	Balinese, Birman (Sacred cat of Burma), European Shorthair, Javanese, Oriental Shorthair (OSH), Peterbald, Ragdoll, Seychellois, Siamese, Thai, Tonkinese
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab