Pyruvate kinase deficiency


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Genetic counseling is of value to prospective parents with a family history of pyruvate kinase deficiency. People who carry the gene can often be diagnosed by the presence of decreased RBC pyruvate kinase activity in their red blood cells.



Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.


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