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glucose-6-phosphate dehydrogenase deficiency

 

Definition: an enzyme deficiency of glucose-6-phosphate dehydrogenase, an enzyme important in maintaining cellular concentrations of reduced nucleotides; the resulting condition is an X-linked disorder caused by a mutation in the gene G6PD on the X chromosome; associated with various polymorphic forms, and can give rise to a variety of anemias including favism, primaquine and other drug-sensitivity anemias, anemias of the newborn, and chronic nonspherocytic hemolytic anemia.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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