Hurler Syndrome

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Hurler Syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans. This disease belongs to a group of diseases called mucopolysaccharidoses, or MPS.

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

Symptoms include:

  • Thick, coarse facial features with low nasal bridge
  • Halted growth
  • Progressive mental retardation
  • Cloudy corneas
  • Deafness
  • Joint disease, including stiffness
  • Heart value problems
  • Abnormal bones in the spine
  • Claw hand

  • Causes:
    Persons with this 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. 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.

    This disease 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 this.

    It 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)

    Enzyme replacement therapy helps the body make alpha-L-iduronidase.

    A bone marrow transplant can improve some of the symptoms of the disease. To prevent mental retardation, a bone marrow transplant probably should be done at a very young age.

    Other treatments depend on the organs that are affected.

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