H00195 | |
H number | H00195 |
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 |
Network | nt06027 Purine salvage pathway |
Gene | APRT; adenine phosphoribosyltransferase [HSA:353] [KO:K00759] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C55.0Y ICD-10: N20.2 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 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 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 |