How do you diagnose pyruvate kinase deficiency?
A diagnosis of PKD can be made by measuring the amount of pyruvate kinase in red blood cells. Individuals with PKD tend to have 5–25% of the normal amount of pyruvate kinase. Carriers of PKD also can have less pyruvate kinase in their red blood cells, approximately 40–60% of the normal value. However, there is an overlap between the normal range of pyruvate kinase and the ranges seen with carriers of PKD. Therefore, measuring the amount of pyruvate kinase in the red blood cells is not a good method of detecting carriers of PKD. If the mutations causing PKD in a family are known, it may be possible to perform mutation analysis to determine carrier status of an individual and to help diagnose individuals with PKD. Source: The Gale Group.
