Article
Triosephosphate isomerase deficiency: facts and doubts.
IUBMB life - 1 Dec 2006
Orosz Ferene, Oláh Judit, Ovádi Judit
Abstract excerpt
Many glycolytic enzymopathies have been described that manifest clinically as chronic hemolytic anemia. One of these, triosephosphate isomerase (TPI) deficiency, is unique among the glycolytic enzyme defects since it is associated with progressive neurological dysfunction and frequently with childhood death. The physiological function of TPI is to adjust the rapid equilibrium between dihydroxyacetone phosphate...
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Brain
- Energy Metabolism
- Erythrocytes
- Glycolysis
- Humans
- Male
- Models, Molecular
- Mutation
- Triose-Phosphate Isomerase
