Hurler Syndrome: α-L-Iduronidase Activity in Leukocytes as a Method for Heterozygote Detection

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Abstract
Extract: α-L-Iduronidase activity and β-galactosidase activity were determined in mixed leukocyte preparations in 10 families in which the Hurler syndrome had occurred. Affected patients, heterozygotes, and normal subjects were clearly distinguished by α-L-iduronidase activity alone. Patients had 0–3%, obligate heterozygotes 19–60%, and normal subjects 83–121% of the mean normal activity. There was no overlap between heterozygotes and normal subjects. Although the mean α-L-iduronidase to β-galactosidase ratio was significantly lowered in heterozygotes when compared with that of normal subjects, appreciable overlap was noted between the two groups. Speculation: Carriers and affected individuals for Hurler syndrome can be reliably detected using mixed leukocyte preparations for the determination of α-L-iduronidase activity. As technology improves enzyme assays will become reliable enough for determination of heterozygotes for an increasing number of disorders, thus enabling more thorough and accurate genetic counseling.

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