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Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency. 2007

L Manco, and M L Ribeiro
Department of Anthropology, University of Coimbra, Portugal. lmanco@antrop.uc.pt

UI MeSH Term Description Entries
D008659 Metabolic Diseases Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006402 Hematologic Diseases Disorders of the blood and blood forming tissues. Blood Diseases,Hematological Diseases,Blood Disease,Disease, Blood,Disease, Hematologic,Disease, Hematological,Diseases, Blood,Diseases, Hematologic,Diseases, Hematological,Hematologic Disease,Hematological Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014305 Triose-Phosphate Isomerase An enzyme that catalyzes reversibly the conversion of D-glyceraldehyde 3-phosphate to dihydroxyacetone phosphate. A deficiency in humans causes nonspherocytic hemolytic disease (ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC). EC 5.3.1.1. Phosphotriose Isomerase,Triosephosphate Isomerase,Triosephosphate Mutase,Isomerase, Phosphotriose,Isomerase, Triose-Phosphate,Isomerase, Triosephosphate,Mutase, Triosephosphate,Triose Phosphate Isomerase

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