Heterogeneity of glucose-6-phosphate dehydrogenase enzymopathies in the CSSR.
GdB- variants of 7 patients from the CSSR have been isolated and characterized kinetically. The properties of these G6PD variants differ phenotypically. Among them we found both a variant with a very high Km G6P and a severe chronic hemolytic anemia and one patient with a low Km G6P variant and only intermittent hemolytic crises and moderate hyperbilirubinemia. The low-Km enzyme corresponds to GdMediterranean like variants with a high utilization of substrate analoga and a biphasic pH profile. A third GdB- variant exhibits a low NADP affinity and high inhibition by ATP. A noticeable low utilization of the analogon dNADP was detectable for two enzymes of heterozygotes.
Jacobasch
G
G
Institute of Biochemistry, Humboldt University, Berlin, GDR.
Sakalova
A
A
Brabec
V
V
D003604:Czechoslovakia; D005260:Female; D014644:Genetic Variation; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007700:Kinetics; D008297:Male; D009249:NADP / Q000378:metabolism; D011379:Prognosis; D013379:Substrate Specificity
D009249:NADP