Lysomal Storage Disorder

The Dwarf Pony

Mucopolysaccharidosis Type VI

Patients with a mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy) have many clinical signs similar to those of mucopolysaccharidosis type I such as disproportionate short stature, coarse facial features and hepatosplenomegaly, but intellectual disability is absent. Rapid and slow progressive forms are known. Stenosis of the cranio-cervical junction, leading to compression of the spinal cord, and vision impairment due to corneal clouding and glaucoma represent common complications.

Mucopolysaccharidosis Type VI | SphinCS - Clinical Science for LSD

Synonym: Maroteaux-Lamy syndrome
Etiology: Deficiency of arylsulfatase B
Gene: ARSB Gene
Mode of inheritance: Autosomal recessive
Leading symptoms:

  • Facial dysmorphia
  • Disproportionate dwarfism
  • Joint contractures
  • Hepatosplenomegaly
  • Umbilical/ unguinal hernia
  • Corneal clouding
  • Hearing impairment
  • Optic nerve atrophy
  • Heart valve insufficiency/ stenosis
  • Hydrocephalus

Diagnostics:

  • Measurement of the activity of arylsulfatase B in leucocytes
  • Molecular genetic analysis of the ARSB Gene

Therapy:
Galsulfase (Naglazyme®)

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.

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