Abstract

The procedure for determining histidase activity in stratum corneum has been modified with respect to thiol protective reagent, reaction pH, substrate concentration, and estimation of product. Stratum corneum from 46 control subjects, 5 histidinemic patients, 7 parents, and 5 sibs were assayed for histidase activity. The mean value for the parents was one-half that for control subjects; all affected individuals had very low values. Although a gene-dosage relationship can be demonstrated, the usefulness of stratum corneum histidase activity has limitations for diagnosis and for heterozygote identification. The three genotypes cannot be clearly separated, local medication may reduce enzyme activity, genetic variants may not be detected, and differences in activity are found between samples from the feet and hands.

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