Israel Mandelbaum

Study of the beta-bexosyminidase separation by electrophoresis in homozygote and heterozygote Tay-Sachs cultured fibroblasts.

SummaryThe electrophoretic β-hexosaminidase pattern of Tay Sachs fibroblasts shows a large fraction, which correspond to the B fraction of normal material and a second fraction, which has the same electrophoretic mobility as the third fraction found in normal fibroblasts.The combined data of qualitative enzyme assays before and after heat inactivation and the electrophoretic pattern seem to give a reliable approach to the problem of detection of homozygote and heterozygote patients.

Deficits enzymatiques de l'erythrocyte avec manifestations hemolytiques

SummaryHemolytic phenomena observed in congenital or acquired erythroenzymopenias express modifications resulting from alterations of the metabolic pathways. Enzymatic deficiences affecting the rate of anaerobie glycolysis interfere with ATP production and consequently osmotic regulation, cellvolume control and cellviability.Erythrocytic enzymopathies related to the pentose phosphates shunt alter the oxydoreduction potential of the cell, affect reduced glutathion stability and peroxide detoxication. They had to membrane lesions through thiol and lipid denaturation and facilitate oxidative hemolysis.