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(Science: biochemistry, syndrome) An error of mucopolysaccharide metabolism due to deficiency of the lysosomal enzyme arylsulphatase B.
It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation.
Onset occurs after two years of age.
Inheritance: autosomal recessive.
Synonym: polydystrophic dwarfism, mucopolysaccharidosis type VI.
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This page was last modified 21:16, 3 October 2005. This page has been accessed 596 times. What links here
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