Adenine phosphoribosyltransferase deficiency
- Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency (also called 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive[cite journal |pmid=8976113 |year=1996 |month=Dec |author=Kamatani, N |title=Adenine phosphoribosyltransferase(APRT) deficiency |volume=54 |issue=12 |pages=3321–7 |issn=0047-1852 |journal=Nippon rinsho. Japanese journal of clinical medicine |url=http://toxnet.nlm.nih.gov/cgi-bin/sis/search/r?dbs+hsdb:@term+@rn+315-30-0 |format=Free full text] metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.][cite journal |pmid=8825602 |year=1995 |month=Nov |author=Terai, C; Hakoda, M; Yamanaka, H; Kamatani, N; Okai, M; Takahashi, F; Kashiwazaki, S |title=Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation |volume=48 |issue=5 |pages=246–50 |issn=0009-9163 |journal=Clinical genetics] ]Presentation
The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.[cite journal |pmid=11138609 |year=2000 |month= |author=Funato, T; Nishiyama, Y; Ioritani, N; Matsuki, R; Yoshida, K; Kaku, M; Sasaki, T; Ideguchi, H; Ono, J |title=Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system |volume=14 |issue=6 |pages=274–9 |issn=0887-8013 |journal=Journal of clinical laboratory analysis |doi=10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2] ]It can result in nephrolithiasis, acute renal failure and permanent kidney damage.
References
External links
*RareDiseases|546|Adenine phosphoribosyltransferase deficiency
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adenine phosphoribosyltransferase deficiency — ad·e·nine phos·pho·ri·bo·syl·trans·fer·ase de·fi·cien·cy (adґə nēn fos″fo riґbo səl transґfer ās) an autosomal recessive disorder of purine salvage (gene locus:16q24.3), resulting in accumulation of the insoluble purine… … Medical dictionary
Adenine phosphoribosyltransferase — Adenine phosphoribosyltransferase, also known as APRT, is a human gene.cite web | title = Entrez Gene: APRT adenine phosphoribosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=353| accessdate … Wikipedia
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