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Adenine phosphoribosyltransferase deficiency

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Adenine phosphoribosyltransferase deficiency can present at any age. Studies have shown that the age of diagnoses can vary from infancy to over the age of 70. Some individuals with APRT deficiency remain completely asymptomatic and only get diagnosed because of familial screening. In 15% of adult
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Vernon, Hilary J.; Osborne, Christine; Tzortzaki, Eleni G.; Yang, Min; Chen, Jianmen; Rittling, Susan R.; Denhardt, David T.; Buyske, Steven; Bledsoe, Sharon B.; Evan, Andrew P.; Fairbanks, Lynette; Simmonds, H. Anne; Tischfield, J.A.Y.A.; Sahota, Amrik (2005).
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Zaidan, M.; Palsson, R.; Merieau, E.; Cornec-Le Gall, E.; Garstka, A.; Maggiore, U.; Deteix, P.; Battista, M.; Gagné, E.-R.; Ceballos-Picot, I.; Duong Van Huyen, J.-P.; Legendre, C.; Daudon, M.; Edvardsson, V.O.; Knebelmann, B. (2014).
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Valaperta, Rea; Rizzo, Vittoria; Lombardi, Fortunata; Verdelli, Chiara; Piccoli, Marco; Ghiroldi, Andrea; Creo, Pasquale; Colombo, Alessio; Valisi, Massimiliano; Margiotta, Elisabetta; Panella, Rossella; Costa, Elena (July 1, 2014).
2322: 585:. Due to its high renal clearance, dihydroxyadenine may be secreted tubularly in addition to being filtered. Thus, APRT deficiency causes elevated dihydroxyadenine levels in the urine. Dihydroxyadenine precipitates in 2315: 943:
Bollée, Guillaume; Dollinger, Cécile; Boutaud, Lucile; Guillemot, Delphine; Bensman, Albert; Harambat, Jérôme; Deteix, Patrice; Daudon, Michel; Knebelmann, Bertrand; Ceballos-Picot, Irène (2010).
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when complications arise. The first kidney stone episode can occur within the first few months of birth or later in life. In infants APRT deficiency may manifest as reddish brown diaper stains.
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within days to weeks. More commonly dihydroxyadenine nephropathy may develop insidiously, causing a progressive decline in kidney function over the span of several years.
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Kamatani, Naoyuki; Kubota, Masaru; Willis, Erik H.; Frincke, Lee A.; Carson, Dennis A. (1984). "5′-Methylthioadenosine is the Major Source of Adenine in Human Cells".
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is a very helpful, noninvasive, and reasonably priced method. The most concentrated urine samples come from morning urine voids, which are ideal for studying
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condition which means that two copies of the mutated gene must be present for adenine phosphoribosyltransferase deficiency to develop.
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Runolfsdottir, Hrafnhildur Linnet; Palsson, Runolfur; Agustsdottir, Inger M.; Indridason, Olafur S.; Edvardsson, Vidar O. (2016).
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Chen, Ju; Sahota, Amrik; Martin, Glenn F.; Hakoda, Masayuki; Kamatani, Naoyuki; Stambrook, Peter J.; Tischfield, Jay A. (1993).
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Bollée, Guillaume; Harambat, Jérôme; Bensman, Albert; Knebelmann, Bertrand; Daudon, Michel; Ceballos-Picot, Irène (2012).
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Nasr, S. H.; Sethi, S.; Cornell, L. D.; Milliner, D. S.; Boelkins, M.; Broviac, J.; Fidler, M. E. (January 11, 2010).
1842:"Plasma concentration and renal excretion of adenine and 2,8-dihydroxyadenine after administration of adenine in man" 1487:
Delbarre, F.; Auscher, C.; Amor, B.; de Gery, A. (1974). "Gout with Adenine Phosphoribosyl Transferase Deficiency".
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in urine, forming crystals that can accumulate, grow, and form stones. This can lead to crystalline nephropathy.
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Harambat, Jérôme; Bollée, Guillaume; Daudon, Michel; Ceballos-Picot, Irène; Bensman, Albert (January 3, 2012).
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Adenine phosphoribosyltransferase deficiency has been classified into two types. Type one is caused by mutant
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of 540 bp. Complete APRT deficiency develops in people who carry mutations in both copies of the APRT gene.
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of APRT*Q0 and is found in individuals from many different countries. Type one causes a complete deficiency
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Edvardsson, Vidar; Palsson, Runolfur; Olafsson, Isleifur; Hjaltadottir, Gunnlaug; Laxdal, Thröstu (2001).
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Kamatani, Naoyuki; Terai, Chihiro; Kuroshima, Shoko; Nishioka, Kusuki; Mikanagi, Kiyonobu (1987).
879:"Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation" 17: 2373: 1218:"Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies" 659: 221: 105: 92: 1894:
Van Acker, Karel J.; Simmonds, H. Anne; Potter, Catherine; Cameron, J. Stewart (July 21, 1977).
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Adenine phosphoribosyltransferase deficiency commonly manifests as symptoms of the kidneys and
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Hidaka, Y; Tarlé, S A; Fujimori, S; Kamatani, N; Kelley, W N; Palella, T D (March 1, 1988).
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in all cases of kidney stones and should be analyzed whenever one becomes available.
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Fujimori, S.; Akaoka, I.; Sakamoto, K.; Yamanaka, H.; Nishioka, K.; Kamatani, N. (1985).
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stone analysis is unreliable for diagnosing APRT deficiency and is unable to distinguish
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Adenine phosphoribosyltransferase deficiency is diagnosed based on the identification of
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Hidaka, Y; Palella, T D; O'Toole, T E; Tarlé, S A; Kelley, W N (November 1, 1987).
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Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of
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but only a partial deficiency in cell extracts. Type two is mainly seen in Japan.
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Huq, Aamira; Nand, Kushma; Juneja, Rajiv; Winship, Ingrid (October 23, 2018).
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Edvardsson, Vidar Orn; Sahota, Amrik; Palsson, Runolfur (September 26, 2019).
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is transformed into 8-hydroxyadenine in people without functional APRT, and
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Hesse, A.; Miersc, W.-D.; Classen, A.; Thon, A.; Doppler, W. (1988).
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Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
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analysis or examination of crystals in the urine. The combination of
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and environmental factors or modifiers might be responsible for this
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Patients with APRT deficiency typically have normal levels of plasma
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Ericson, Ă….; Groth, T.; Niklasson, F.; De Verdier, C.-H. (1980).
633:. For the identification of dihydroxyadenine crystals, light and 2421: 2263: 2200: 2067:"Kidney Disease in Adenine Phosphoribosyltransferase Deficiency" 1099:"Gout, uric acid and purine metabolism in paediatric nephrology" 507: 405: 2304: 1729:. Vol. 165 Pt B. Boston, MA: Springer US. pp. 83–88. 553:
can only be found in small amounts in blood and urine because
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Scandinavian Journal of Clinical and Laboratory Investigation
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enzyme, which offers the sole metabolic route for recovering
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Mitochondrial neurogastrointestinal encephalopathy syndrome
1493:. Vol. 41. Boston, MA: Springer US. pp. 333–339. 1172:(9). Ovid Technologies (Wolters Kluwer Health): 1521–1527. 826:(3). American Society for Clinical Investigation: 945–950. 393:. In some cases APRT deficiency is first diagnosed after a 1896:"Complete Deficiency of Adenine Phosphoribosyltransferase" 1045:"Adenine phosphoribosyltransferase deficiency in children" 955:(4). Ovid Technologies (Wolters Kluwer Health): 679–688. 871: 869: 938: 936: 934: 932: 1595:"Autosomal recessive: MedlinePlus Medical Encyclopedia" 1391:(2). Springer Science and Business Media LLC: 171–176. 1228:(2). Springer Science and Business Media LLC: 163–168. 1109:(1). Springer Science and Business Media LLC: 105–118. 1055:(4). Springer Science and Business Media LLC: 571–579. 718: 716: 714: 305:
APRT deficiency is often identified by the presence of
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Clinical Journal of the American Society of Nephrology
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Adenosine Monophosphate Deaminase Deficiency type 1
2351: 2342: 2243: 2136: 889:(1). Springer Science and Business Media LLC: 102. 486:Adenine phosphoribosyltransferase deficiency is an 204: 191: 170: 157: 145: 137: 129: 116: 91: 71: 37: 32: 2007:Daudon, Michel; Jungers, Paul (October 19, 2004). 1097:Cameron, J. S.; Moro, F.; Simmonds, H. A. (1993). 1783:"APRT deficiency: the need for early diagnosis" 1342:(6). Oxford University Press (OUP): 1909–1915. 381:. No extrarenal symptoms have been documented. 1545:CHEN, CHUNG-JEN; SCHUMACHER, H. RALPH (2009). 1162:"Adenine Phosphoribosyltransferase Deficiency" 690:"Adenine Phosphoribosyltransferase Deficiency" 2512:Inborn errors of purine-pyrimidine metabolism 2316: 1906:(3). Massachusetts Medical Society: 127–132. 1726:Advances in Experimental Medicine and Biology 1490:Advances in Experimental Medicine and Biology 949:Journal of the American Society of Nephrology 8: 2391:Adenine phosphoribosyltransferase deficiency 2269:Adenine phosphoribosyltransferase deficiency 2258:Adenine Phosphoribosyltransferase Deficiency 1014:(3). Baishideng Publishing Group Inc.: 218. 298:of APRT*J results in a full enzyme defiency 215:Adenine phosphoribosyltransferase deficiency 33:Adenine phosphoribosyltransferase deficiency 2477:Dihydropyrimidine dehydrogenase deficiency 2445: 2412:Purine nucleoside phosphorylase deficiency 2348: 2323: 2309: 2301: 2133: 446:can initially present acutely and lead to 82: 52: 29: 2098: 1816: 1798: 1691: 1562: 1347: 1306: 1288: 1177: 1019: 978: 960: 912: 894: 849: 831: 787: 769: 613:and morphologic examination under a 671: 617: allows for the identification of 510:, encompasses 2.8 kb of DNA, and has a 692:. University of Washington, Seattle. 7: 458:which causes urine supersaturation, 2071:American Journal of Kidney Diseases 1439:American Journal of Kidney Diseases 1336:Nephrology Dialysis Transplantation 1277:American Journal of Transplantation 25: 18:2,8 dihydroxy-adenine urolithiasis 2359:Adenylosuccinate lyase deficiency 1008:World Journal of Clinical Urology 820:Journal of Clinical Investigation 758:Journal of Clinical Investigation 500:adenine phosphoribosyltransferase 265:adenine phosphoribosyltransferase 250:Adenine phosphoribosyltransferase 232:(APRT) catalyzes the creation of 230:Adenine phosphoribosyltransferase 46:2,8 Dihydroxyadenine urolithiasis 1693:10.1111/j.1523-1755.2005.00487.x 563:5-phosphoribosyl-1-pyrophosphate 427:crystals precipitate inside the 416:with a partial APRT deficiency. 242:5-phosphoribosyl-1-pyrophosphate 1900:New England Journal of Medicine 2407:Adenosine deaminase deficiency 1852:(1). Informa UK Limited: 1–7. 1283:(11). Elsevier BV: 2623–2632. 1: 2502:Autosomal recessive disorders 2336:purine–pyrimidine metabolism 2123:Rare Kidney Stone Consortium 1960:(3). S. Karger AG: 174–178. 1735:10.1007/978-1-4757-0390-0_18 1637:10.1016/0027-5107(93)90014-7 1499:10.1007/978-1-4684-3294-7_40 557:catalyzes the conversion of 2077:(3). Elsevier BV: 431–438. 1912:10.1056/nejm197707212970302 1686:(3). Elsevier BV: 938–947. 1631:(2). Elsevier BV: 217–225. 1551:The Journal of Rheumatology 1445:(3). Elsevier BV: 473–480. 224:caused by mutations of the 2528: 2083:10.1053/j.ajkd.2015.10.023 2019:(2). S. Karger AG: 31–36. 1002:BollĂ©e, Guillaume (2014). 571:5′-adenosine monophosphate 517:There is no evidence that 166:and kidney stone analysis. 133:Infancy to late adulthood. 100:and urinary tract stones, 1858:10.3109/00365518009091520 1061:10.1007/s00467-011-2037-0 391:renal replacement therapy 317:, kidney stone analysis, 177:Uric acid nephrolithiasis 60: 51: 1954:Urologia Internationalis 1793:. BMJ: bcr–2018–225742. 896:10.1186/1471-2369-15-102 537:All tissues express the 502:(APRT) gene is found on 435:as well as cause severe 379:Urinary tract infections 102:Urinary tract infections 1800:10.1136/bcr-2018-225742 1451:10.1053/ajkd.2001.26826 567:inorganic pyrophosphate 462:, and precipitation of 238:adenosine monophosphate 123:End-stage renal disease 1021:10.5410/wjcu.v3.i3.218 962:10.1681/asn.2009080808 589:and becomes extremely 579:xanthine dehydrogenase 549:biosynthesis sources. 483: 412:have been reported in 375:chronic kidney disease 339:chronic kidney disease 267:make large amounts of 172:Differential diagnosis 110:chronic kidney disease 2441:Pyrimidine metabolism 2128:UK Kidney Association 1564:10.3899/jrheum.081051 635:polarizing microscopy 611:infrared spectroscopy 477: 185:Primary hyperoxaluria 2382:Lesch–Nyhan syndrome 1680:Kidney International 1179:10.2215/cjn.02320312 1103:Pediatric Nephrology 1049:Pediatric Nephrology 269:2,8-Dihydroxyadenine 506:q24, contains five 488:autosomal recessive 456:acute renal failure 385:cases present with 371:acute kidney injury 219:autosomal recessive 2374:Nucleotide salvage 2244:External resources 2013:Nephron Physiology 1397:10.1007/bf00283377 1349:10.1093/ndt/gfp711 1234:10.1007/bf00591080 1115:10.1007/bf00861588 660:Nucleotide salvage 484: 345:Signs and symptoms 341:in most patients. 222:metabolic disorder 141:Type 1 and type 2. 106:blood in the urine 2489: 2488: 2485: 2484: 2435: 2434: 2344:Purine metabolism 2298: 2297: 2025:10.1159/000080261 1966:10.1159/000281332 1744:978-1-4757-0392-4 1508:978-1-4684-3296-1 1290:10.1111/ajt.12926 833:10.1172/jci113408 771:10.1172/jci113219 730:. October 1, 2012 655:Purine metabolism 545:from dietary and 395:kidney transplant 261:Genetic mutations 212: 211: 159:Diagnostic method 149:Mutations in the 27:Medical condition 16:(Redirected from 2519: 2446: 2349: 2325: 2318: 2311: 2302: 2134: 2112: 2102: 2052: 2051: 2049: 2047: 2004: 1993: 1992: 1990: 1988: 1945: 1939: 1938: 1936: 1934: 1891: 1885: 1884: 1882: 1880: 1837: 1831: 1830: 1820: 1802: 1787:BMJ Case Reports 1778: 1772: 1771: 1769: 1767: 1720: 1714: 1713: 1695: 1670: 1664: 1663: 1661: 1659: 1616: 1610: 1609: 1607: 1605: 1591: 1585: 1584: 1566: 1557:(5): 1090–1091. 1542: 1536: 1535: 1533: 1531: 1484: 1478: 1477: 1475: 1473: 1430: 1424: 1423: 1421: 1419: 1376: 1370: 1369: 1351: 1327: 1321: 1320: 1310: 1292: 1267: 1261: 1260: 1258: 1256: 1213: 1207: 1206: 1204: 1202: 1181: 1157: 1142: 1141: 1139: 1137: 1094: 1088: 1087: 1085: 1083: 1040: 1034: 1033: 1023: 999: 993: 992: 982: 964: 940: 927: 926: 916: 898: 873: 864: 863: 853: 835: 811: 802: 801: 791: 773: 749: 740: 739: 737: 735: 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Index

2,8 dihydroxy-adenine urolithiasis

Dihydroxyadenine
purine
Specialty
Endocrinology
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Symptoms
Kidney
Urinary tract infections
blood in the urine
chronic kidney disease
Complications
End-stage renal disease
APRT gene
Diagnostic method
Urine microscopy
Differential diagnosis
Uric acid nephrolithiasis
Xanthinuria
Primary hyperoxaluria
Medication
Allopurinol
autosomal recessive
metabolic disorder
APRT
Adenine phosphoribosyltransferase
pyrophosphate
adenosine monophosphate
5-phosphoribosyl-1-pyrophosphate

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