Assays / Genetic Enzymes / Sly Disease (Mucopolysaccharidosis Type VII)

This is a rare mucopolysaccharidosis with a very variable phenotype. There is a late onset form with skeletal dysplasia, an intermediate form with a phenotype resembling Hurler disease, with or without corneal clouding, and, probably most commonly, a very severe form that presents in the neonatal period with hydrops fetalis and dysostosis multiplex.

Enzyme Tests:
Deficiency of ß-glucuronidase is the primary defect.

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