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Abstract
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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Article info
Publication history
Accepted:
July 22,
1970
Received:
September 18,
1969
Identification
Copyright
© 1970 Published by Elsevier Inc.
