KEGG   DISEASE: H00198Help
Entry
H00198                      Disease                                
Name
Orotic aciduria
Description
Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid.
Category
Inherited metabolic disease; Hematologic disease
BRITE hierarchy
Pathway
Pyrimidine metabolism
Gene
UMPS; uridine monophosphate synthetase [HSA:7372] [KO:K13421]
Marker
Orotic acid [CPD:C00295]
Drug
Uridine [CPD:C00299]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
Reference
PMID:9042911
  Authors
Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y
  Title
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
  Journal
Am J Hum Genet 60:525-39 (1997)

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