#HunterSyndrome, also known as #MucopolysaccharidosisTypeII (#MPSII), is a rare, inherited lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (I2S). Without this enzyme, the body cannot break down specific complex sugars called glycosaminoglycans (GAGs), causing them to accumulate inside cells and progressively damage multiple organs.
Hunter syndrome primarily affects boys because it is inherited in an X-linked pattern. The disease can involve the skeleton, joints, heart, lungs, liver, hearing, and nervous system. Symptoms usually appear during early childhood and vary considerably, ranging from slowly progressive forms to severe disease with neurological involvement.
Although Hunter syndrome is lifelong, early recognition and multidisciplinary care can help manage complications and improve quality of life. Increasing awareness is essential because earlier diagnosis gives families access to specialist care, genetic counseling, and appropriate treatment options before irreversible organ damage occurs.