Gargoylism

Gargoylism also known as Hurler's syndrome or Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder characterized by a deficiency of a specific enzyme required to break down molecules called glycosaminoglycans.

Symptoms

The symptoms of Gargoylism typically become apparent within the first year or two of life. These may include abnormal bone development, coarse facial features, clouded corneas, heart disease, hearing loss, hydrocephalus, hernia, joint stiffness and mental retardation.

Causes

Gargoylism is caused by mutations in the IDUA gene. This gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans. Mutations in the IDUA gene reduce or completely eliminate the function of this enzyme, leading to the accumulation of glycosaminoglycans in the body's cells.

Diagnosis

Diagnosis of Gargoylism is based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as enzyme analysis or molecular genetic testing.

Treatment

There is currently no cure for Gargoylism. Treatment is directed toward the specific symptoms that are apparent in each individual. This may include physical therapy for joint stiffness, surgery for bone abnormalities, and enzyme replacement therapy to slow the progression of the disease.

Prognosis

The prognosis for individuals with Gargoylism varies. Some individuals have a severe form of the disorder and live only into early childhood, while others have a milder form and live into adulthood.

See also

• Genetic disorder
• Enzyme
• Gene
• Mutation

References

Gargoylism Resources
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