triosephosphate isomerase deficiency
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triosephosphate isomerase deficiencyAn autosomal recessive condition (OMIM:190450) that is the most severe clinical disorder of glycolysis.
Neonatal jaundice, chronic haemolytic anaemia, progressive neuromuscular dysfunction, cardiomyopathy, increased susceptibility to infection.
Caused by defects of TPI1, which encodes triosephosphate isomerase 1, a key enzyme in glycolysis and gluconeogenesis.
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triosephosphate isomerase deficiencyMolecular 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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.