Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 6
Definition
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
Also known as ARSB deficiency, arylsulfatase B deficiency, ASB deficiency, Maroteaux Lamy Syndrome, Maroteaux-Lamy disease, Maroteaux-Lamy syndrome, MPS6, MPSVI, mucopolysaccharidosis type VI, mucopolysaccharidosis type VI (Maroteaux-Lamy), N-acetylgalactosamine 4-sulfatase deficiency — per MONDO