Lysomal Storage Disorder

The Dwarf Pony

Mucopolysaccharidosis Type IX

Mucopolysaccharidosis type IX (MPS IX) has been named a disease in which the enzyme hyaluronidase is deficient, and that is clinically characterized by mild short stature and notable periarticular soft tissue masses, but without neurological or visceral involvement. After the first description by Natowicz and co-authors in 1996 further cases of one family have been described who showed clinical signs of a juvenile arthritis.

Mucopolysaccharidosis Type IX | SphinCS - Clinical Science for LSD

Etiology: Deficiency of hyaluronidase 1
Gene: HYAL1 Gene
Mode of inheritance: Autosomal recessive
Leading symptoms:  - Skeletal abnormalities
Diagnostics:

  • Measurement of the activity of hyaluronidase 1
  • Molecular genetic analysis of HYAL1 Gene

Therapy:
Only symptomatic

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

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

Literature

At present we have no literature available.

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