MPS II is an inherited condition that causes a wide range of signs and symptoms that can range from mild to severe and life-threatening.

About MPS II – Hunter Syndrome

Hunter syndrome, also known as Mucopolysaccharidosis II or MPS II, is a chronic, progressive, debilitating and often life-threatening disease. It is an X-linked recessive inherited disorder caused by a deficiency of an enzyme called iduronate-2-sulfatase (I2S). Without sufficient amounts of this enzyme, cellular waste products called glycosaminoglycans (GAGs) accumulate in various tissues and organs, which then begin to malfunction, leading to irreversible damage, severe clinical complications and early mortality.  

Hunter syndrome represents a wide spectrum of disease severity ranging from mild to severe. The incidence of MPS II is estimated to be 1:162,000.1 Onset of the disease usually occurs between 2 and 4 years of age. The lifespan is approximately 50-60 years for individuals at the mild end of the disease spectrum and between 10-15 years for individuals at the severe end. Death is usually as a result of airway obstruction or cardiac failure.

Signs and symptoms

Possible signs and symptoms include coarse facial features, pebbly ivory coloured skin lesions over the back, upper arms and lateral aspects of the thigh, enlarged tongue, vision impairment, hearing loss, gastro-intestinal upsets, hydrocephalus, skeletal deformities (joint stiffness, carpel tunnel syndrome, short stature), obstructive airway disease and, cardiovascular disease. Central nervous system involvement progresses over time in the severe form of the disease.

Parco Brothers, Phillipines, MPS II patients

Additional Information

To learn more about MPS II contact your doctor or other healthcare professionals, or the following patient associations:

Mucopolysaccharide and Related Diseases Society Aust. Ltd
PO Box 623,
NSW 1630
P. 02 9476-8411
F. 02 9476-8422


  1. Meikle PJ, Hopwood JJ, Claque WF. Prevalence of lysosomal storage disorders. JAMA. Jan 20;281(3):249-54.
Last Updated: 12/12/2014
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