The Dwarf Pony

Mucopolysaccharidosis Type VII

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.

Mucopolysaccharidosis Type VII | SphinCS - Clinical Science for LSD

Synonym: Sly syndrome
Etiology: Deficiency of beta-glucuronidase
Gene: GUSB Gene
Leading symptoms:


Vestronidase alfa (Mepsevii®)