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A family is described in which both the patient and his father exhibit an unusual variant of erythrocyte and leukocyte hexokinase activity. In vitro assays under standard conditions, e.g., high glucose concentrations, reveal near-normal levels of hexokinase activity. However, as the glucose concentration is decreased, the mutant hexokinase activity falls rapidly and is undetectable at substrate concentrations which still show 20 per cent of maximal activity in the normal cells. This enzyme defect is associated, in the patient, with a marked hemolytic process and, in the father, with a compensated hemolytic process. Splenectomy proved to be of marked benefit in the patient. This appears to represent the fourth described type of erythrocyte hexokinase variant.
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Accepted: July 22, 1970
Received: September 18, 1969
© 1970 Published by Elsevier Inc.