G6PD Huntsville: a new glucose-6-phosphate dehydrogenase associated with chronic hemolytic anemia.
We describe a previously unreported glucose-6-phosphate dehydrogenase (G6PD) variant. G6PD Huntsville was found in a Caucasian male, resident of Huntsville, Alabama who was investigated for otherwise unexplained chronic hemolytic anemia. An unusual feature of this unique, apparently hemolytic, G6PD mutant is that its red cell enzymatic activity has not been decreased. The mutant enzyme is unstable. Additionally, the enzyme variant is characterized by normal electrophoretic mobility, biphasic and slightly alkaline pH optimum, and abnormal kinetics for the natural substrates G6PD and NADP as well as the artificial substrates deamino NADP. Its activity for another artificial substrate 2-deoxy G6PD is normal. The inhibition constant for NADPH is normal. The subject has had no evidence of episodic jaundice.
Hall
K
K
Division of Hematology, University of Alabama, Birmingham.
Schreeder
M T
MT
Prchal
J T
JT
D000368:Aged; D000407:Alabama; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D002908:Chronic Disease; D005954:Glucosephosphate Dehydrogenase / Q000037:antagonists & inhibitors / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000037:antagonists & inhibitors / Q000235:genetics*; D007700:Kinetics; D008297:Male; D009154:Mutation
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase