Only a few (about 100) patients with a mucopolysaccharidosis type VII (MPS VII, Sly disease, deficiency of Beta-glucuronidase) have been described. The phenotypic spectrum of this enzyme defect ranges form letal hydrops fetalis to a very mild form with only slight skeletal deformities. Symptoms of the severe form are comparable to those seen in other mucopolysaccharidoses.
Synonym: Sly syndrome
Etiology: Deficiency of beta-glucuronidase
Gene: GUSB Gene
Vestronidase alfa (Mepsevii®)
Gesellschaft für Mukopolysaccharidosen e.V.
At the moment we are not aware of any self-help groups.
At present we have no literature available.