Hurler syndrome

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Low nasal bridge

Hurler syndrome

Definition:

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

Alternative Names:
Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I; Hurler-Scheie Syndrome (MPS 1 H/S); Scheie Syndrome (MPS1S)
Causes, incidence, and risk factors:

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Hurler syndrome (MPS1) is an inherited and progressive disorder that results from the body's inability to makelysosomal alpha-L-iduronate, an enzymethathelps breakdown mucopolysaccharides.Mucopolysaccharides are made of a Jello-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 mucopolysaccharidesto 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,aclassification 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 autosommal recessive trait.Approximately 1 in 115,000 individuals are affected.

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. 05-4899. February 9, 2005.