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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.
K Hall, and
M T Schreeder, and
J T Prchal
January 1982,
Human genetics,
K Hall, and
M T Schreeder, and
J T Prchal
January 1983,
Human genetics,
K Hall, and
M T Schreeder, and
J T Prchal
April 1988,
Human genetics,
K Hall, and
M T Schreeder, and
J T Prchal
June 1986,
American journal of hematology,
K Hall, and
M T Schreeder, and
J T Prchal
January 1982,
Vox sanguinis,
K Hall, and
M T Schreeder, and
J T Prchal
January 1982,
Acta haematologica,
K Hall, and
M T Schreeder, and
J T Prchal
July 1988,
Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
K Hall, and
M T Schreeder, and
J T Prchal
February 1980,
Blood,
K Hall, and
M T Schreeder, and
J T Prchal
March 1974,
Clinica chimica acta; international journal of clinical chemistry,
K Hall, and
M T Schreeder, and
J T Prchal
January 1982,
Human genetics,
