Term Name: | triosephosphate isomerase deficiency |
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Synonyms: | Triose phosphate-isomerase deficiency |
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. |
Ontology: | Human Disease [DOID:0050884] ( DOID:0050884 ) |