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.