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Alpha-iduronidase

A blood test that measures the level of the enzyme alpha-iduronidase, whose deficiencyór is associated with a genetically determined disease called Hurler or mucopolysaccharidosis.

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Test description

Alpha-iduronidase

Clinical significance

Alpha-iduronidase is an enzyme that cleaves mucopolysaccharides. In individuals who have a disorder of this process, through the lack of the enzyme, there is an accumulation of sugarsów which causes enlargement of the liver, spleen, thickening of facial featuresów and scyphilitic changes. These are symptoms of a disease called mucopolysaccharidosis. Patientsów with a suspicion of this metabolic disease have their blood alpha-iduronidase activity determined. Decreased or absent levels of the enzyme suggest mucopolysaccharidosis type I

Patient preparation

Material: Heparinized blood

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