Lysomal Storage Disorder
The Dwarf Pony
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II, Hunter disease, defect of the enzyme iduronate-sulfatase) is an X-linked storage disorder; therefore almost solely male patients are affected. The clinical signs and symptoms are comparable with those of mucopolysaccharidosis type I, corneal clouding, however, is absent. Characteristic striking features in Hunter disease are pronounced joint contractures. The phenotypic spectrum ranges from a severe (neurological) form with a profound visceral and skeletal manifestation and intellectual disability to a very mild form with only a few somatic features and normal intelligence.
Synonym: Hunter syndrome
Etiology: Deficiency of iduronate-2-sulfatase
Gene: IDS Gene
Vererbungsmodus: X-chromosomal
Phenotypes:
- Neuropathic form
- Non-neuropathic form
Leading symptoms:
Neuropathic form
- Inguinal/ umbilical hernia
- Skeletal abnormalities: dysostosis multiplex, joint contractures
- Facial dysmorphia
- Hepatosplenomegaly
- Psychomotor development delay
- Hearing impairment
Non-neuropathischic Form
- Inguinal/ umbilical hernia
- Skeletal abnormalities: dysostosis multiplex, joint contractures
- Facial dysmorphia
- Hepatosplenomegaly
- Heart valve insufficiency/ stenosis
- Carpal tunnel syndrome
- Hearing impairment
Diagnostics:
- Measurement of the activity of iduronat-2-sulfatase (preferred in serum or dried blood spot)
- Molecular genetic analysis of IDS Gene
Therapy:
Idursulfase (Elaprase®)
Current Studies
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.