KEGG   DISEASE: H00674Help
Entry
H00674                      Disease                                

Name
Anemia due to disorders of nucleotide metabolism, including:
Adenylate kinase (AK) deficiency;
Uridine 5-prime monophosphate hydrolase (UMPH1) deficiency
Description
Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan.
Category
Hematologic disease
BRITE hierarchy
Pathway
Purine metabolism  
Pyrimidine metabolism
Gene
AK1 [HSA:203] [KO:K00939]
UMPH1 [HSA:51251] [KO:K01081]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:8890581
  Authors
Masuda M, Mizoguchi H
  Title
[Hemolytic anemia due to abnormalities in erythrocyte nucleotide metabolism].
  Journal
Nihon Rinsho 54:2473-7 (1996)
Reference
PMID:1646049
  Authors
Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR
  Title
Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
  Journal
Blood 77:2774-84 (1991)
Reference
  Authors
Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC
  Title
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
  Journal
Blood 97:3327-32 (2001)
Reference
  Authors
Zanella A, Bianchi P, Fermo E, Valentini G
  Title
Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
  Journal
Br J Haematol 133:113-23 (2006)
Reference
  Authors
Jurecka A
  Title
Inborn errors of purine and pyrimidine metabolism.
  Journal
J Inherit Metab Dis 32:247-63 (2009)

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