TPI1 is a gene that produces an enzyme, triosephosphate isomerase, involved in glycolysis. Glycolysis is a basic metabolic pathway of ten steps that converts glucose into pyruvate, which occurs in the liquid part of cells, the cytosol. TPI1 is a gene that produces an enzyme, triosephosphate isomerase, involved in glycolysis. Glycolysis is a basic metabolic pathway of ten steps that converts glucose into pyruvate, which occurs in the liquid part of cells, the cytosol. This enzyme consists of two identical monomers. The mutations may weaken the connection between the two parts, and this can be the reason of the disease.
At least half of the cases were caused by the same mutation; in these cases, the illness is fatal in early childhood (age 5-8); there was only one patent who reached age 20. The other mutations do not cause such a severe symptoms.
TPI1