Lysomal Storage Disorder

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:

  • Hydrops fetalis (prenatale form)
  • Facial dysmorphia
  • Dysostosis multiplex
  • Umbilical/ unguinal hernia
  • Psychomotor development delay
  • Corneal clouding
  • Hearing impairment
  • Hepatosplenomegaly

Diagnostics:

  • Measurement of the activity of beta-glucuronidase
  • Molecular genetic analysis of the GUSB Gene

Therapy:
Vestronidase alfa (Mepsevii®)

Current Studies

The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

Self-help groups

Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/

At the moment we are not aware of any self-help groups.

Literature

At present we have no literature available.