Scheie syndrome

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Scheie syndrome (pronounced SHAY syndrome) is a rare genetic disorder, and the mildest form of Mucopolysaccharidosis type I (MPS I). It is named after Harold Glendon Scheie, an American ophthalmologist who first described the condition in 1962.

Etymology

The syndrome is named after Harold Glendon Scheie, who first described the condition. The term "syndrome" is derived from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "concurrence of running together".

Definition

Scheie syndrome is a metabolic disorder characterized by a deficiency of the enzyme alpha-L-iduronidase, which is involved in the breakdown of glycosaminoglycans (GAGs) in the body. This deficiency leads to the accumulation of GAGs in various tissues and organs, causing a range of symptoms.

Symptoms

Symptoms of Scheie syndrome can vary widely among affected individuals. They may include corneal clouding, glaucoma, carpal tunnel syndrome, joint stiffness, and heart disease. Unlike more severe forms of MPS I, individuals with Scheie syndrome typically have normal intelligence and a near-normal life expectancy.

Diagnosis

Diagnosis of Scheie syndrome is based on clinical examination, identification of characteristic symptoms, detailed patient history, and specialized tests such as enzyme assay and genetic testing.

Treatment

There is currently no cure for Scheie syndrome. Treatment is symptomatic and supportive, and may include enzyme replacement therapy (ERT), physical therapy, and surgery to manage specific symptoms.

See also

External links

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