mucopolysaccharidosis type 6

Definition: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B.

Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal.

Mucopolysaccharidosis type VI (MPS VI, MPS6) is caused by mutation in the gene encoding arylsulfatase B (ARSB; MIM.611542).