KEGG   DISEASE: H00195Help
Entry
H00195                      Disease                                

Name
Adenine phosphoribosyltransferase deficiency;
2,8-Dihydroxyadenine urolithiasis
Description
Adenine phosphoribosyltransferase deficiency is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.
Category
Inherited metabolic disease; Urologic disease
BRITE hierarchy
Pathway
Purine metabolism
Gene
APRT; adenine phosphoribosyltransferase [HSA:353] [KO:K00759]
Marker
2,8-dihydroxyadenine
Drug
Allopurinol [DG:DG00779]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N
  Title
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
  Journal
Nucleosides Nucleotides Nucleic Acids 23:1141-5 (2004)
Reference
  Authors
Silva M, Silva CH, Iulek J, Thiemann OH
  Title
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
  Journal
Biochemistry 43:7663-71 (2004)
Reference
  Authors
Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A
  Title
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
  Journal
Mol Genet Metab 72:260-4 (2001)

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