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Hurler syndrome

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

 

Hurler syndrome is a rare 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 mucopolysaccharidosis, or MPS.

See also:

  • MPS II (Hunter syndrome)
  • MPS IV (Morquio syndrome)
  • MPS III (Sanfilippo syndrome)
  • MPS I S (Scheie syndrome)

Causes

 

People with Hurler syndrome do not make an enzyme called lysosomal alpha-L-iduronidase. This enzyme helps break down long chains of sugar molecules called glycosaminoglycans . 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. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.

Hurler syndrome is a type of mucopolysaccharidosis called MPS I. It 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 to 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:

  • Abnormal bones in the spine
  • Claw hand
  • Cloudy corneas
  • Deafness
  • Halted growth
  • Heart valve problems
  • Joint disease, including stiffness
  • Intellectual disability that gets worse over time
  • Thick, coarse facial features with low nasal bridge

 

Exams and Tests

 

These tests are done to check for Hurler syndrome:

  • EKG
  • Genetic testing for changes to the alpha-L-iduronidase (IDUA) gene
  • Urine tests for extra mucopolysaccharides
  • X-ray of the spine

 

Treatment

 

Enzyme replacement therapy for Hurler syndrome adds a working form of the missing enzyme to the body. The medicine, called laronidase (Aldurazyme), is given through a vein (IV, intravenously). Talk to your health care provider for more information.

Bone marrow transplant has been used in several people 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:

 

Outlook (Prognosis)

 

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

 

When to Contact a Medical Professional

 

Call your 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. Prenatal testing is available.

 

 

References

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.

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 260.

Spranger J. Mucopolysaccharidoses. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 82.

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. PMID: 15128896 www.ncbi.nlm.nih.gov/pubmed/15128896.

Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 40.

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          Review Date: 4/20/2015

          Reviewed By: Chad Haldeman-Englert, MD, FACMG, 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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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