About Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Hunter syndrome, also known as Mucopolysaccharidosis 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. 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.

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

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