Hurler

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Hurler Syndrome

Hurler Syndrome (pronounced: /ˈhɜːrlər/), also known as Mucopolysaccharidosis type I (MPS I), is a rare genetic disorder characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. This deficiency leads to an accumulation of specific complex carbohydrates, glycosaminoglycans (GAGs), in nearly every cell of the body.

Etymology

The syndrome is named after Gertrud Hurler, a German pediatrician who first described the condition in 1919.

Symptoms

Symptoms of Hurler Syndrome may include coarse facial features, clouding of the corneas, hearing loss, heart disease, obstructive airway disease, and skeletal abnormalities.

Diagnosis

Diagnosis of Hurler Syndrome is typically made through clinical examination, specific laboratory tests, and confirmed by genetic testing.

Treatment

Treatment for Hurler Syndrome may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and supportive care to manage symptoms.

Prognosis

Without treatment, children with Hurler Syndrome rarely live past the age of 10. With early and ongoing treatment, individuals with Hurler Syndrome can lead a better quality of life.

See Also

External links

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