Hurler syndrome

Alternative names:

gargoylism; mucopolysaccharidosis type I

Prevention:

Genetic counseling is important for prospective parents with a family history of Hurler syndrome. In addition, tests are available for the prenatal diagnosis of Hurler syndrome. The test consists of an amniocentesis and collection of amniotic fluid. Cells in the amniotic fluid are then cultured and the a-L-iduronidase activity in the cells is determined.