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Hurler Syndrome
Alternate Names : Alpha-L-Iduronate Deficiency, MPS I, Mucopolysaccharidosis Type I
Definition Hurler syndrome is an inherited disease that belongs to a group of diseases called mucopolysaccharidoses. Storage of abnormal quantities of this material (mucopolysaccharide) in different body tissues is responsible for the symptoms and appearance of the disease.
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Overview, Causes, & Risk Factors
Hurler syndrome is inherited as an autosomal recessive trait. The metabolic defect that causes Hurler syndrome is the body's inability to make an enzyme called lysosomal alpha-L-iduronate.
Approximately 1 in 150,000 infants are affected. Newborn infants with this defect appear normal at birth but, by the end of the first year, signs of impending problems begin to develop. The children slowly develop coarse, thick, facial features, prominent dark eyebrows, cloudy corneas, progressive stiffness, and obvious mental retardation.
The disease damages many organs including the heart and heart valves. In the early onset form of the disease, death occurs in the early teens, often from the associated heart disease.
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• Definition
• Hurler Syndrome Overview, Causes, & Risk Factors
• Hurler Syndrome Symptoms & Signs
• Hurler Syndrome Prevention
• Hurler Syndrome Diagnosis & Tests
• Hurler Syndrome Treatment
• Hurler Syndrome Prognosis
• Hurler Syndrome Complications
• Hurler Syndrome Support Groups
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Heart Disease
• Hernia
• Kyphosis
• Mental Retardation
• Umbilical Hernia
Tests & Exams
• Amniocentesis
• Chest X-Ray
• ECG
• Thoracic Spine X-Ray
• X-Ray - Skeleton
Other Topics
• Amniotic Fluid
• Autosomal Recessive
• Dislocation
• Enzyme
• Epicanthal Folds
• Excessive or Unwanted Hair in Women
• Genetic Counseling and Prenatal Diagnosis
• Hearing Loss
• Heart Murmurs and Other Sounds
• Hepatomegaly
• Low Nasal Bridge
• Short Stature
• Splenomegaly
Review Date : 8/27/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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