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HomePediatrics: Genetics and Metabolic DiseaseSly Syndrome (Mucopolysaccharidosis Type VII)

Sly Syndrome (Mucopolysaccharidosis Type VII)

Background

Sly syndrome, also called mucopolysaccharidosis type VII (MPS VII), is a very rare lysosomal storage disease that has an autosomal-recessive inheritance pattern. Sly syndrome is named after William S. Sly, an American biochemist and physician. Dr. Sly and his research team described a patient with skeletal features similar to those observed in other patients previously diagnosed with MPS.
Sly syndrome is caused by deficiency of the enzyme beta-glucuronidase,
and it was the first MPS for which the altered gene was localized to an autosome chromosome, the long arm of chromosome 7 (7q11.21; OMIM #253220).

The mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders that are caused by a deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. MPSs show extensive genetic heterogeneity, both among and within gene loci.

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