Hurler syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Low nasal bridge

Overview

Symptoms

Treatment

Prevention

Hurler syndrome

Alternative Names:

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I; Hurler-Scheie Syndrome (MPS 1 H/S); Scheie Syndrome (MPS1S)

Treatment:

Enzyme replacement therapy is now possible for patients with a defect in the enzyme a-L-iduronidase.

Bone marrow transplantation can improve some of the symptoms of the disease. To prevent mental retardation, a bone marrow transplant probably should be performed at a very young age. Other treatments depend on the affected organ system.

Support Groups:

For more information and support, contact one of the following organizations:

The National MPS Society: www.mpssociety.org
Canadian Society for MPS and Related Diseases: www.mpssociety.ca
Society for MPS Diseases: www.mpssociety.co.uk

Expectations (prognosis):

Hurler syndrome is a disease with a poor prognosis. Children with this disease have progressive neurological impairment. Early death can occur.

Calling your health care provider:

Call your health care provider if you have a family history of Hurler syndrome and are considering having children, or if your child begins to develop a group of the characteristic signs and symptoms of Hurler syndrome.

References:

Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 05-4899. February 9, 2005.

Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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