triosephosphate isomerase deficiency


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triosephosphate isomerase deficiency

An autosomal recessive condition (OMIM:190450) that is the most severe clinical disorder of glycolysis.

Clinical findings
Neonatal jaundice, chronic haemolytic anaemia, progressive neuromuscular dysfunction, cardiomyopathy, increased susceptibility to infection.

Molecular pathology
Caused by defects of TPI1, which encodes triosephosphate isomerase 1, a key enzyme in glycolysis and gluconeogenesis.

triosephosphate isomerase deficiency

Molecular medicine An AD error of metabolism caused by a deficit of triose phosphate isomerase which leads to a block in glycolytic pathway and a generalized defect in energy metabolism within cells Clinical Hemolytic anemia, progressive neuromuscular impairment, spasticity
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