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Using 4-methylumbelliferyl-alpha-L-iduronide as a substrate, alpha-L-iduronidase activity was measured in leukocytes and in lymphoblastoid cells obtained from patients with alpha-L-iduronidase deficiency and from obligate heterozygotes for this disease. There was complete discrimination between alpha-L-iduronide in leukocytes and in lymphoblastoid cells from the patients and controls. However, overlap was observed between values of the activity in the obligate heterozygotes and those in the controls. 4-Methylumbelliferyl-alpha-L-iduronidase activity because of greater sensitivity, easier assay procedure and shorter incubation period.

Fluorometric measurement of .ALPHA.-L-iduronidase activity using 4-methylumbelliferyl-.ALPHA.-L-iduronide.