Hurler syndrome

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Low nasal bridge

Hurler syndrome is an inherited disease that belongs to a group of diseases called mucopolysaccharidoses, or MPS.

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

Hurler syndrome (MPS1) is an inherited and progressive disorder that results from the body's inability to make lysosomal alpha-L-iduronate, an enzyme that helps breakdown mucopolysaccharides. Mucopolysaccharides are made of a Jell-O-like material and are found throughout the body, often in mucus secretions and in fluids surrounding the joints.

The enzyme deficiency found in Hurler syndrome causes mucopolysaccharides to build up in the body. The result is a multisystem disorder with symptoms that range from mild to severe. The disease damages many organs, including the heart.

In the past, MPS1 was called Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome. Because there is no clear distinction between the groups, a classification based on disease severity has been suggested:

• Hurler as severe MPS1
• Hurler-Scheie as intermediate MPS1
• Scheie as mild MPS1

Hurler syndrome is inherited as an autosomal recessive trait. Approximately 1 in 115,000 individuals are affected.

Review Date: 04/20/2005
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.