Lysomale Speichererkankung
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.
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
Aktuelle Studien
Zur Zeit finden keine Studien statt.
Die "U.S. National Library of Medicine" bietet unter www.clinicaltrials.gov eine vollständige Liste aller internationalen Studien. Die vergleichbare Website der EU ist nicht ganz so umfassend: www.clinicaltrialsregister.eu.
Selbsthilfegruppen
Zur Zeit sind uns keine Selbsthilfegruppen bekannt.
Literatur
Zur Zeit liegt uns keine Literatur vor.