Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency

摘要

In a Hungarian family with triosephosphate isomerase (TPI) deficiency, two compound heterozygote brothers were found with the same severe decrease in TPI activity, but only one of them had the classical symptoms. In search for the pathogenesis of the differing phenotype of the same genotypic TPI deficiency, an increase in red cell mem- brane fluidity was found. There were roughly 100/100 and 30/100 more 16:0/20:4 and 18:0/20:4 diacyl-phosphatidylcholine spe- cies in erythrocytes from the two TPI-deficient brothers than in the probes from healthy controls.