Sign in  |  Register

Illustrated Health Encyclopedia
[an error occurred while processing this directive]

Ency. home > Disease > H > Hurler syndrome

Hurler syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Mucopolysaccharidosis type I; Alpha-L-iduronase deficiency (formerly gargoylism)

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.

Causes and Risks

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-iduronase.

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.

Ency. home > Disease > H > Hurler syndrome

[an error occurred while processing this directive]