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pyruvate kinase deficiency
Broader Terms:
congenital hemolytic anemia
Broader Terms:
enzyme deficiency
Broader Terms:
inborn metabolism disorder
Related Terms:
autosomal recessive trait
Scope Note:
autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.
Term Number:
1849-8130
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