Mucopolysaccharidosis, Type II (MPS II)

About

Mucopolysaccharidosis type II (MPS II) is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because individuals with MPS II have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.

There are two types of MPS II: the neuropathic form (more severe) and non-neuropathic (less severe). MPS II occurs almost exclusively in males, however it has been reported in a few girls. Children will appear typical at birth, with signs and symptoms appearing between the ages of two and four years old.

Early signs of MPS II include soft out-pouching around the bellybutton or lower abdomen (hernias), full lips, rounded cheeks, broad nose, large head, hoarse voice, and respiratory issues. Along with age of onset, the symptoms and long-term outcomes within the spectrum of disease vary widely.