KEGG   DISEASE: Adenine phosphoribosyltransferase deficiency
Entry
H00195                      Disease                                
Name
Adenine phosphoribosyltransferase deficiency;
2,8-Dihydroxyadenine urolithiasis
Description
Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.
Category
Inherited metabolic disorder
Brite
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
     H00195  Adenine phosphoribosyltransferase deficiency
Pathway-based classification of diseases [BR:br08402]
 Nucleotide metabolism
  nt06027  Purine salvage pathway
   H00195  Adenine phosphoribosyltransferase deficiency
Pathway
hsa00230  Purine metabolism
Network
nt06027 Purine salvage pathway
Gene
APRT [HSA:353] [KO:K00759]
Other DBs
ICD-11: 5C55.0Y
MeSH: C538228
OMIM: 614723
Reference
PMID:15571218
  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)
DOI:10.1081/NCN-200027393
Reference
PMID:15196008
  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)
DOI:10.1021/bi0360758
Reference
PMID:11243733
  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)
DOI:10.1006/mgme.2000.3142

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