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.
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