triosephosphate isomerase deficiency
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.