Hurler syndrome

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Definition

noun

A type of lysosomal storage disease that is often caused by a deficiency of alpha-L iduronidase resulting in the buildup of glycosaminoglacans (particularly, heparan sulfate) within the lysosomes


Supplement

Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is Hurler syndrome.

Hurler syndrome is caused by a deficiency of the glycoprotein enzyme, alpha-L iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans. It specifically catalyzes the hydrolysis of the terminal alpha-L-induronic acid residues in glycosaminoglycans. Without this enzyme, there is an accumulation of glycosaminoglycans (partricularly, heparan sulfate) in lysosomes. This leads to the manifestation of symptoms associated with Hurler syndrome at childhood age. Some of the symptoms are hepatosplenomegaly, dwarfism, and progressive developmental deterioration. The condition may lead to death by the age of ten.

Hurler syndrome is inherited as an autosomal recessive trait. This means an individual with Hurler syndrome inherited from both parents a defective gene (i.e. IDUA gene) associated with the production of iduronidase enzyme.

The condition is named after a German pediatrician, Gertrud Hurler, who described it.


Variant(s):

  • Hurler's syndrome

Synonym(s):

  • mucopolysaccharidosis type I
  • gargoylism

See also: