Hurler

From WikiMD's Wellnesspedia

Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). Hurler syndrome belongs to a group of diseases called mucopolysaccharidosis, specifically MPS IH (MPS 1).

Symptoms[edit | edit source]

The symptoms of Hurler syndrome may not be visible immediately at birth but start to become apparent during the first or second year of life. These symptoms include:

Causes[edit | edit source]

Hurler syndrome is caused by a deficiency of the enzyme alpha-L iduronidase, which is involved in the breakdown of glycosaminoglycans. This deficiency is due to mutations in the IDUA gene. The disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Diagnosis[edit | edit source]

Diagnosis of Hurler syndrome is based on clinical examination and laboratory testing. Laboratory tests include urine tests for excess glycosaminoglycans and blood tests to measure enzyme activity. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

Treatment for Hurler syndrome is aimed at managing the symptoms and improving quality of life. This may include:

Prognosis[edit | edit source]

Without treatment, children with Hurler syndrome often do not live past the age of 10. With treatment, life expectancy can be extended, and quality of life can be improved.

See also[edit | edit source]

References[edit | edit source]


Hurler Resources

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Contributors: Admin, Prab R. Tumpati, MD