Hurler's syndrome

Hurler's syndrome, also known as Mucopolysaccharidosis Type I (MPS I), is a rare genetic disorder characterized by a deficiency of a specific enzyme required to break down complex sugars in the body. This deficiency leads to a buildup of these sugars, causing a range of health problems.

Symptoms

The symptoms of Hurler's syndrome typically become apparent in early childhood. They include abnormal bone growth, vision problems, heart disease, respiratory problems, and developmental delay. Children with Hurler's syndrome may also have a distinctive appearance, with coarse facial features, a large head, and a short neck.

Causes

Hurler's syndrome is caused by mutations in the IDUA gene, which provides instructions for producing an enzyme called alpha-L-iduronidase. This enzyme is involved in the breakdown of complex sugars called glycosaminoglycans (GAGs). When the enzyme is deficient or absent, GAGs accumulate in the body's cells, leading to the symptoms of Hurler's syndrome.

Diagnosis

Diagnosis of Hurler's syndrome is based on a clinical examination, genetic testing, and laboratory tests to measure the level of alpha-L-iduronidase in the blood and to detect the presence of excess GAGs in the urine.

Treatment

While there is no cure for Hurler's syndrome, treatments are available to manage symptoms and improve quality of life. These may include enzyme replacement therapy (ERT), bone marrow transplant, and physical therapy.

Prognosis

The prognosis for individuals with Hurler's syndrome varies. Without treatment, most children with the condition do not survive past early childhood. However, with early diagnosis and treatment, individuals with Hurler's syndrome can live into adolescence or adulthood.

See also

• Mucopolysaccharidosis
• Genetic disorder
• Enzyme replacement therapy

NIH genetic and rare disease info

• NIH info on Hurler's syndrome

Hurler's syndrome is a rare disease.

Hurler's syndrome Resources
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