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.
