MPS I - Hurler/Scheie

hurlerHurler, Scheie and Hurler/Scheie Syndromes are mucopolysaccharide disorders and are also known respectively as MPS IH, MPS IS, and MPS IH/S. Hurler Syndrome takes its name from Gertrud Hurler, the doctor who described a boy and girl with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about some of his patients who were more mildly affected.

MPS I is currently divided into three broad groups according to the severity of the symptoms. Children severely affected are said to have Hurler Syndrome; those who are of normal intelligence and who live into adult life are said to have Scheie Syndrome. Those with normal or near normal intelligence but with more severe physical symptoms than those with Scheie Syndrome are known to have Hurler/Scheie Syndrome.

All MPS I individuals lack the same enzyme called alpha-L-iduronidase and there is at present no reliable way of telling from biochemical tests how severe the disorder will be. The MPS I gene has now been located and is being studied. This may lead in the future to a more precise diagnosis. Until then the doctor must rely on an examination of the child to help give an opinion concerning the likely severity of the disorder.

It is important to remember that, whatever label is given to your child's condition, the disorder is very varied in its effects.

The Australian prevalence of Hurler syndrome is 1 in 88,000. The estimate for Scheie Syndrome is 1 in 500,000 births and for Hurler/Scheie Syndrome is 1 in 115,000.

Genzyme Corp have set up an information website specifically for MPS I sufferers, their medical advisers and caregivers. Please click on this link to view the site:

Information on the Govt life saving drug program can be found at:

Further information on MPS I is available from our National Office, including an MPS I syndrome booklet which can be purchased with the attached order form.