Adenine phosphoribosyltransferase deficiency 3820994 218311007 2008-06-10T01:52:36Z Arcadian 104523 ref {{Infobox_Disease | Name = {{PAGENAME}} | Image = Dihydroxyadenine.png | Caption = Dihydroxyadenine, an insoluble purine | DiseasesDB = 32632 | ICD10 = {{ICD10|E|79||e|70}} | ICD9 = {{ICD9|277.2}} | ICDO = | OMIM = 102600 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshName = | MeshNumber = | }} '''Adenine phosphoribosyltransferase deficiency''' (also called '''2,8 dihydroxyadenine urolithiasis''') is an [[autosomal]] [[recessive]] [[metabolic disorder]]. ==Causes== It is associated with a mutation in [[adenine phosphoribosyltransferase]].<ref name="pmid8825602">{{cite journal |author=Terai C, Hakoda M, Yamanaka H, ''et al'' |title=Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation |journal=Clin. Genet. |volume=48 |issue=5 |pages=246–50 |year=1995 |month=November |pmid=8825602 |doi= |url=}}</ref> ==Presentation== It results in accumulation of the insoluble [[purine]] [[2,8-dihydroxyadenine]].<ref name="pmid11138609">{{cite journal |author=Funato T, Nishiyama Y, Ioritani N, ''et al'' |title=Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system |journal=J. Clin. Lab. Anal. |volume=14 |issue=6 |pages=274–9 |year=2000 |pmid=11138609 |doi= |url=http://dx.doi.org/10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2}}</ref> It can result in [[nephrolithiasis]], [[acute renal failure]] and permanent [[kidney]] damage. [[Image:autorecessive.svg|thumb|left|{{PAGENAME}} has an [[autosomal recessive]] pattern of inheritance.]] ==References== {{reflist}} {{Purine, pyrimidine, porphyrin, bilirubin metabolic pathology}} [[Category:Genetic disorders]] [[Category:Autosomal recessive disorders]] [[Category:Kidney diseases]] {{genetic-disorder-stub}}