Glucose-6-Phosphate Dehydrogenase Velletri

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Abstract
A new variant of red cell glucose-6-phosphate dehydrogenase (G6PD) was found in a Caucasian man with congenital non-spherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, increased Km for G-6-P and NADP, slightly increased electrophoretic mobility and a biphasic pH-activity profile. The red cell adenine compounds and ATP, are in normal limits. The increased activity of red cell NADP-glutathione reductase is probably the expression of a mechanism of compensation for the decrease of G6PD and a consequence of the decrease of NADPH.

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