Triosephosphate Isomerase Enzyme Activity, Blood

Use

Triosephosphate isomerase converts dihydroxyacetone phosphate to glyceraldehyde 3-phosphate during glycolysis. Clinically significant TPI deficiency is a rare autosomal recessive disorder that presents as a severe multisystem disease with early hemolytic anemia and progressive neurologic impairment. Other features may include motor impairment, diaphragm paralysis, cardiomyopathy, and infection susceptibility. Evaluating individuals with chronic nonspherocytic hemolytic anemia and early onset neurologic impairment can aid genetic counseling for those with triosephosphate isomerase deficiency.