Lipid and Carbohydrate Metabolism in Acatalasemia

[摘要] Oxidative stress appears to be involved in degenerative diseases, including atherosclerosis and some forms of diabetes mellitus. The free radicals that damage cellular macromolecules are scavenged by a range of antioxidant enzymes. Superoxide dismutase catalyzes the conversion of superoxide anion into hydrogen peroxide, and catalase (EC 1.11.1.6) provides the main defense against the toxic hydrogen peroxide (1)(2). Despite interest in antioxidant capacity, determination of antioxidants is not routine (3)(4)(5).In acatalasemia, a genetic deficiency of erythrocyte catalase inherited as an autosomal recessive trait, and in hypocatalasemia, heterozygosity of the acatalasemia gene, the defense system against hydrogen peroxide is diminished; however, no biochemical changes have been reported for this syndrome (6)(7). Furthermore, recent findings concerning the connection of decreased antioxidant enzyme activities and diabetes mellitus lack clarification of the mechanism (8)(9).We have reported on two acatalasemic sisters in the first Hungarian acatalasemic family (10) and nine hypocatalasemic families (11) with 37 hypocatalasemics. The frequencies for acatalasemia and hypocatalasemia in Hungary are 0.05 in 1000 …

[学科分类] 过敏症与临床免疫学