Hurler–Scheie syndrome
Hurler–Scheie syndrome (pronounced: HUR-ler SHAY syndrome) is a rare genetic disorder that falls under the category of mucopolysaccharidoses (MPS). It is specifically known as MPS type I H/S.
Etymology
The syndrome is named after two physicians, Dr. Gertrud Hurler and Dr. Harold Scheie, who independently described the condition in the early 20th century.
Definition
Hurler–Scheie syndrome is a lysosomal storage disease caused by a deficiency in the enzyme alpha-L-iduronidase. This deficiency leads to an accumulation of specific sugars, known as glycosaminoglycans (GAGs), in the body's cells and tissues. The accumulation of GAGs interferes with the normal functioning of cells, leading to a variety of symptoms.
Symptoms
Symptoms of Hurler–Scheie syndrome can vary widely among affected individuals. They may include coarse facial features, clouding of the cornea, joint stiffness, and heart disease. Some individuals may also have mild mental retardation.
Diagnosis
Diagnosis of Hurler–Scheie syndrome is based on clinical examination, identification of characteristic symptoms, detailed patient history, and a variety of specialized tests. These tests may include urine tests for excess GAGs, blood tests to measure enzyme activity, and genetic testing to identify mutations in the IDUA gene.
Treatment
There is currently no cure for Hurler–Scheie syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to correct physical abnormalities, and enzyme replacement therapy to provide the missing enzyme.
Prognosis
The prognosis for individuals with Hurler–Scheie syndrome varies depending on the severity of symptoms. Some individuals have a normal lifespan, while others may have life-threatening complications at a young age.
See also
External links
- Medical encyclopedia article on Hurler–Scheie syndrome
- Wikipedia's article - Hurler–Scheie syndrome
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