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 normal intelligence.

Mucopolysaccharidosis Type II | SphinCS - Clinical Science for LSD

Synonym: Hunter syndrome
Etiology: Deficiency of iduronate-2-sulfatase
Gene: IDS Gene
Vererbungsmodus: X-chromosomal

Leading symptoms:
Neuropathic form

Non-neuropathischic Form


Idursulfase (Elaprase®)