KEGG   DISEASE: Dihydropyrimidinase deficiency
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00199  Dihydropyrimidinase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00199  Dihydropyrimidinase deficiency
Pathway
hsa00240  Pyrimidine metabolism
hsa00983  Drug metabolism - other enzymes
Gene
DPYS; dihydropyrimidinase [HSA:1807] [KO:K01464]
Other DBs
ICD-11: 5C55.1
MeSH: C562815
OMIM: 222748
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
DOI:10.1016/j.ymgme.2005.07.027
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)
DOI:10.1086/302022
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)
DOI:10.1023/A:1005309423960
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