triosephosphate isomerase deficiency (DOID:0050884)
Alliance: disease page
Synonyms: Triose phosphate-isomerase deficiency
Alt IDs: OMIM:615512, MESH:C566029
Definition: A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.