KEGG   DISEASE: H00664Help
Entry
H00664                      Disease                                

Name
Anemia due to disorders of glycolytic enzymes, including:
Hexokinase (HK) deficiency;
Phosphoglycerate kinase 1 (PGK1) deficiency;
Triose-phosphate isomerase (TPI) deficiency;
Glucose phosphate isomerase (GPI) deficiency;
Bisphosphoglycerate mutase (BPGM) deficiency
Description
Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those of any other glycolytic enzyme deficiency.
Category
Hematologic disease
BRITE hierarchy
Pathway
 
Gene
HK1 [HSA:3098] [KO:K00844]
PGK1 [HSA:5230] [KO:K00927]
TPI1 [HSA:7167] [KO:K01803]
GPI [HSA:2821] [KO:K01810]
BPGM [HSA:669] [KO:K01837]
Marker
(TPI deficiency) Elevation of DHAP [CPD:C00111] level in erythrocytes.
Other DBs
Reference
  Authors
Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
  Title
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
  Journal
Biochim Biophys Acta 1474:75-87 (2000)
Reference
  Authors
van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW
  Title
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
  Journal
Blood 101:345-7 (2003)
Reference
  Authors
Beutler E
  Title
PGK deficiency.
  Journal
Br J Haematol 136:3-11 (2007)
Reference
  Authors
Olah J, Orosz F, Puskas LG, Hackler L Jr, Horanyi M, Polgar L, Hollan S, Ovadi J
  Title
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
  Journal
Biochem J 392:675-83 (2005)
Reference
  Authors
Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
  Title
Amoxicillin-induced hemolytic anemia in a child with glucose 6-phosphate isomerase deficiency.
  Journal
Ann Pharmacother 44:1327-9 (2010)
Reference
  Authors
Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
  Title
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
  Journal
Am J Hematol 75:205-8 (2004)
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