Red cell 3-phosphoglycerate level as a diagnostic aid in pyruvate kinase deficiency

Abstract

A case of pyruvate kinase (PK) deficiency is described in which the diagnosis was aided by measurement of the 3-phosphoglycerate (3PG) concentration. Review of the literature on the levels of red cell metabolites in 52 families with PK deficiency confirmed that a rise in 3PG is a valuable indicator of a functional deficiency of PK. Estimation of 3PG is relatively easy (and accurate). Furthermore, reticulocytosis, which sometimes makes the diagnosis of PK deficiency more difficult, has minimal effect on the level of 3PG in comparison with all other glycolytic intermediates or PK activity.