KEGG   DISEASE: H00199Help
Entry
H00199                      Disease                                

Name
Dihydropyrimidinase deficiency;
Dihydropyrimidinuria
Description
Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Pyrimidine metabolism
Drug metabolism - other enzymes
Gene
DPYS; dihydropyrimidinase [HSA:1807] [KO:K01464]
Marker
Dihydrouracil [CPD:C00429]
Dihydrothymine [CPD:C00906]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
Reference
PMID:9718352
  Authors
Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y
  Title
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
  Journal
Am J Hum Genet 63:717-26 (1998)
Reference
PMID:9266350
  Authors
van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB
  Title
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
  Journal
J Inherit Metab Dis 20:339-42 (1997)

» Japanese version

DBGET integrated database retrieval system