mucopolysaccharidosis type 6
mucopolysaccharidosis type 6
An autosomal recessive lysosomal storage disease (OMIM:253200) characterised by intracellular accumulation of dermatan sulfate.Clinical findings
Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects.
Molecular pathology
Defects in ARSB on chromosome 5q11-q13, which encodes arylsulfatase B, causes mucopolysaccharidosis type 6.