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Hurler syndrome


Definition:

Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS.

See also:

Alternative Names:

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I H

Causes, incidence, and risk factors:

Persons with Hurler syndrome do not make a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.

Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe.

Hurler syndrome is inherited, which means that your parents must pass the disease on to you. Both parents need to pass down the faulty gene in order for you to develop Hurler syndrome.

Hurler syndrome is a type of mucopolysaccharidosis called MPS I. Hurler syndrome is the most severe type. It is categorized as MPS I H.

The other subtypes of MPS I are:

  • MPS I H-S (Hurler-Scheie syndrome)
  • MPS I S (Scheie syndrome)
Symptoms:

Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life.

Symptoms include:

Signs and tests:
  • EKG
  • Genetic testing for the alpha-L-iduronidase (IDUA) gene
  • Urine tests for extra mucopolysaccharides
  • X-ray of the spine
Treatment:

Enzyme replacement therapy adds a working form of the missing enzyme to the body.

Bone marrow transplant has been used in several patients with this condition. The treatment has had mixed results.

Other treatments depend on the organs that are affected.

Support Groups:

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

Expectations (prognosis):

Hurler syndrome is a disease with a poor outlook. Children with this disease develop nervous system problems, and can die young.

Calling your health care provider:

Call your health care provider if:

  • You have a family history of Hurler syndrome and are considering having children
  • Your child begins to show symptoms of Hurler syndrome
Prevention:

Experts recommend genetic counseling and testing for couples with a family history of Hurler syndrome who are considering having children.

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. 03-5115. February 13, 2007.

Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 39.


Review Date: 5/15/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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