Triosephosphate isomerase deficiency

Definition

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Also known as hemolytic anaemia due to triosephosphate isomerase deficiency, hemolytic anemia due to triosephosphate isomerase deficiency, triose phosphate-isomerase deficiency, triosephosphate isomerase deficiency — per MONDO

Also identified as

• DOID 0050884 per MONDO
• ICD9 282.3 per MONDO
• MESH C566029 per MONDO
• NCIT C131652 per MONDO
• OMIM 615512 per MONDO
• Orphanet 868 per MONDO
• SCTID 234405009 per MONDO
• UMLS C1860808 per MONDO