Medical Health Encyclopedia

Hurler syndrome

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Low nasal bridge

Overview Symptoms Treatment Prevention

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)

Text Continues Below

---

Causes, incidence, and risk factors:

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 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 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 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.