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Sly syndrome

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An autosomal recessive disorder caused by a deficiency of the enzyme β-glucuronidase resulting in the accumulation of glycosaminoglacans (dermatan sulfate, heparan sulfate, and chondroitin sulfate) in tissues and organs


Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is Sly syndrome.

Sly syndrome is one of the different types of mucopolysaccharidosis. It is because the condition leads to the accumulation of mucopolysaccharides (now called glycosaminoglycans). The buildup of this biomolecules is due to the insufficient production of the enzyme, β-glucuronidase.

Sly syndrome is a metabolic disorder that is inherited in an autosomal recessive pattern. This means that the child receives from both parents a copy of a defective gene that affects the production of functional β-glucuronidase. The gene associated with this condition is the GUSB gene. It codes for the particular enzyme and pathological mutations in this gene impede the production of β –glucuronidase.

The symptoms of Sly syndrome include macrocephaly, corneal opacity, iris coloboma, anteverted nostrils, cleft palate, pectus carinatum, umbilical hernia, underdeveloped ilium, scoliosis, dysostosis multiplex, etc. The name is derived from the name of an American biochemist, William S. Sly, who first described it.


  • mucopolysaccharidosis type VII
  • β-glucuronidase deficiency
  • β-glucuronidase deficiency

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