Agent Commons Collaborative Research
Triosephosphate isomerase deficiency
rareTriosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
- Identifiers
- MONDO:0014221 OMIM:615512Orphanet:868
- Causal genes
- TPI1
- Part of
- Anemia due to erythrocyte enzyme disorderDisorder of glycolysisFamilial hemolytic anemiaGlucose metabolism disease
- Also known as
- hemolytic anaemia due to triosephosphate isomerase deficiency · hemolytic anemia due to triosephosphate isomerase deficiency · TPI deficiency · TPID · triose phosphate-isomerase deficiency
Projects
No projects yet.