Hurler syndrome

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Mucopolysaccharidosis (Hurler's Syndrome) 1

Hurler syndrome (also known as Mucopolysaccharidosis type I, MPS I, or Hurler's disease) is a genetic disorder that results from the buildup of glycosaminoglycans (GAGs) due to a deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency leads to a range of symptoms and physical abnormalities.

Signs and Symptoms[edit | edit source]

Individuals with Hurler syndrome typically exhibit symptoms within the first year of life. Common signs and symptoms include:

Genetics[edit | edit source]

Hurler syndrome is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the defective gene, one from each parent. The gene responsible for Hurler syndrome is located on chromosome 4p16.3 and encodes the enzyme alpha-L-iduronidase.

Diagnosis[edit | edit source]

Diagnosis of Hurler syndrome is typically based on clinical presentation and confirmed through enzyme assay tests that measure the activity of alpha-L-iduronidase. Genetic testing can also identify mutations in the IDUA gene.

Treatment[edit | edit source]

There is no cure for Hurler syndrome, but treatments are available to manage symptoms and improve quality of life. These include:

Prognosis[edit | edit source]

The prognosis for individuals with Hurler syndrome varies. Without treatment, life expectancy is significantly reduced, often not extending beyond the first decade of life. With early intervention, particularly with HSCT, some individuals may live into adolescence or adulthood.

History[edit | edit source]

Hurler syndrome was first described by German pediatrician Gertrud Hurler in 1919. It is one of several types of Mucopolysaccharidosis disorders, which are collectively known as lysosomal storage diseases.

See Also[edit | edit source]

Related Pages[edit | edit source]


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Contributors: Prab R. Tumpati, MD