Article
Red cell enzymopathies as a model of inborn errors of metabolism.
The Southeast Asian journal of tropical medicine and public health - 1 Jan 1995
Miwa S, Kanno H, Hirono A, Fujii H
Abstract excerpt
The molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic anemia have been determined using molecular techniques. Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency involving the glycolytic pathway and causing hereditary hemolytic anemia. We have identified six distinct missense mutations and a form of splicing mutation in 11 unrelated...
Topics
- Anemia, Hemolytic
- Enzymes
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Homozygote
- Humans
- Metabolism, Inborn Errors
- Point Mutation
- Polymorphism, Genetic
- Pyruvate Kinase