Article
First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
Genetics and molecular research : GMR - 30 Jun 2007
Kedar P S, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H, Colah R B
Abstract excerpt
Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling was performed in an...
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