PYRUVATE (O.S.)

Overview

Pyruvate kinase (PK) deficiency is the most easily masked of the RBC enzyme disorders and can be difficult to classify without complete information, which may require comparison to other RBC enzyme activity levels or correlation with results of PKLR gene molecular testing (PKLRG / Pyruvate Kinase Liver and Red Blood Cell [PKLR] Full Gene Sequencing and Large Deletion Detection, Varies). Most hemolytic anemias due to PK deficiency are associated with activity levels less than 40% of mean normal. However, some patients with clinically significant hemolysis can have normal or only mildly decreased PK enzyme activity, which paradoxically may occur in individuals with the most severe symptoms. Isolated carriers (heterozygotes) may show mildly decreased activity and are typically hematologically normal, although the carrier state may exacerbate other RBC disorders such as glucose 6-phosphate dehydrogenase deficiency, RBC membrane disorders, or hemoglobinopathies. Some alterations in other genes (ie, KLF1) can be associated with decreased PK levels. Elevated PK concentrations can be found in those patients with younger erythrocyte population. This may be due to the patient being a newborn or young red cells are being produced in response to the anemia (reticulocytosis). Rare PK deficient cases have been associated with minimally increased PK levels; however, comparison to other RBC enzyme activity would be critical in these cases for accurate interpretation.