Medical Health Encyclopedia

Hurler syndrome


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Low nasal bridge
Low nasal bridge
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Alternative Names

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


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


Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).




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