Lack of phosphorothio isomerase

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Triose phosphate isomerase deficiency (TPI) - a rare, genetically determined enzyme defect, manifested as severe hemolytic anemia. The disease causes a mutation in the TPI gene in the 12p13 locus. TPI is inherited in an autosomal dominant way. Defect affects almost all cells; In erythrocytes, the level of dihydroxyacetone phosphate is increased. The TPI is severe, often ending with childhood death due to neurological complications, susceptibility to infection and development of cardiomyopathy. Bibliography

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