Article
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
British journal of haematology - 1 Jun 2006
Pissard Serge, Max-Audit Isabelle, Skopinski Laurent, Vasson Aurélie, Vivien Pascal, Bimet Catherine, Goossens Michel, Galacteros Frederic, Wajcman Henri
Abstract excerpt
Pyruvate kinase (PK) deficiency is the most common enzyme defect affecting the glycolytic pathway of the erythrocyte. Usually, it is clinically silent in heterozygotes but serious disorders are described at birth in homozygotes or compound heterozygotes. Including the mutants herein reported, more than 180 mutations of the PK-LR gene have now been identified. This 3-year study was carried out to detect mutations...
Topics
- Anemia, Hemolytic, Congenital
- DNA Mutational Analysis
- Erythrocytes
- Genotype
- Glucosephosphate Dehydrogenase
- Homozygote
- Humans
- Infant, Newborn
- Mutation
- Phenotype
- Pyruvate Kinase