Hurler syndrome

Alternative names:

gargoylism; mucopolysaccharidosis type I

Definition:

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, incidence, and 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 a-L-iduronidase. 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 features, prominent dark eyebrows, cloudy corneas, progressive stiffness, and obvious mental retardation. The disease damages many organs including the heart and heart valves. Death occurs in the early teens, often from the associated heart disease.