HYPOCATALASEMIA: A NEW GENETIC CARRIER STATE*

Abstract

Clinical, biochemical and genetic aspects of hereditary acatalasemia, a rare disorder characterized by the absence of catalase activity in erythrocytes and other tissues, are presented. The study of the heterozygous carrier state of acatalasemia, which was identified earlier, is amplified in this report. Using a biochemical assay for erythrocyte catalase activity, the mean value expressed as Kcat for a normal control group is 5.38 units while that of heterozygotes is 2.17 with no overlap of values between the 2 groups.