Hurler syndrome
Hurler syndrome
Hurler syndrome (pronounced: HUR-ler SIN-drome), also known as Mucopolysaccharidosis type I (MPS I), is a rare genetic disorder that affects many parts of the body. It is named after the German pediatrician, Dr. Gertrud Hurler, who first described the condition in 1919.
Etymology
The term "Hurler syndrome" is derived from the name of its discoverer, Dr. Gertrud Hurler. The term "Mucopolysaccharidosis" comes from the type of molecule that builds up in the tissues of people with this condition. "Mucopolysaccharides" are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints.
Symptoms
Hurler syndrome is characterized by a variety of symptoms that can vary greatly in severity. Common symptoms include abnormal bone development, clouding of the cornea, hearing loss, heart valve disease, joint stiffness, and mental retardation.
Causes
Hurler syndrome is caused by mutations in the IDUA gene. This gene provides instructions for producing an enzyme that breaks down certain complex carbohydrates in the body. Mutations in the IDUA gene disrupt the function of this enzyme, leading to the accumulation of these carbohydrates in various tissues and organs.
Diagnosis
Diagnosis of Hurler syndrome is based on a clinical examination, detailed patient history, and specialized tests such as enzyme analysis and genetic testing.
Treatment
There is currently no cure for Hurler syndrome. Treatment is focused on managing the symptoms and improving the quality of life. This may include enzyme replacement therapy, bone marrow transplant, and physical therapy.
Prognosis
The prognosis for individuals with Hurler syndrome varies. Without treatment, most children with this condition do not live past early childhood. However, with early diagnosis and appropriate treatment, individuals with Hurler syndrome can live into adolescence or adulthood.
See also
External links
- Medical encyclopedia article on Hurler syndrome
- Wikipedia's article - Hurler syndrome
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