KEGG   DISEASE: Anemia due to disorders of glycolytic enzymes
Entry
H00664                      Disease                                
Name
Anemia due to disorders of glycolytic enzymes
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
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00664  Anemia due to disorders of glycolytic enzymes
Pathway
hsa00010  Glycolysis / Gluconeogenesis
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]
Other DBs
ICD-11: 3A10.Y
ICD-10: D55.2
OMIM: 235700 300653 615512 613470 222800
Reference
PMID:10699493
  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)
DOI:10.1016/S0304-4165(99)00218-4
Reference
PMID:12393545 (HK1)
  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)
DOI:10.1182/blood-2002-06-1851
Reference
PMID:1547346 (PGK1)
  Authors
Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S
  Title
A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.
  Journal
Blood 79:1582-5 (1992)
DOI:10.1182/blood.V79.6.1582.1582
Reference
PMID:7628118 (TPI1)
  Authors
Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schroter W
  Title
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.
  Journal
Clin Genet 47:175-9 (1995)
DOI:10.1111/j.1399-0004.1995.tb03955.x
Reference
PMID:8499925 (GPI)
  Authors
Walker JI, Layton DM, Bellingham AJ, Morgan MJ, Faik P
  Title
DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.
  Journal
Hum Mol Genet 2:327-9 (1993)
DOI:10.1093/hmg/2.3.327
Reference
PMID:15054810 (BPGM)
  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)
DOI:10.1002/ajh.20014

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Disease (5)   
   OMIM (5)   
Gene (10)   
   KEGG ORTHOLOGY (5)   
   KEGG GENES (5)   
Literature (6)   
   PubMed (6)   
All databases (21)   

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