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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).
2311: 574:. 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 2304: 932:
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).
1831:"Plasma concentration and renal excretion of adenine and 2,8-dihydroxyadenine after administration of adenine in man" 1476:
Delbarre, F.; Auscher, C.; Amor, B.; de Gery, A. (1974). "Gout with Adenine Phosphoribosyl Transferase Deficiency".
805:"Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese" 2320: 1321:"Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure" 582:
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).
868:"Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation" 2362: 1207:"Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies" 648: 210: 94: 81: 1883:
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).
622:. For the identification of dihydroxyadenine crystals, light and 2410: 2252: 2189: 2056:"Kidney Disease in Adenine Phosphoribosyltransferase Deficiency" 1088:"Gout, uric acid and purine metabolism in paediatric nephrology" 496: 394: 2293: 1718:. Vol. 165 Pt B. Boston, MA: Springer US. pp. 83–88. 542:
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
1482:. Vol. 41. Boston, MA: Springer US. pp. 333–339. 1161:(9). Ovid Technologies (Wolters Kluwer Health): 1521–1527. 815:(3). American Society for Clinical Investigation: 945–950. 382:. In some cases APRT deficiency is first diagnosed after a 1885:"Complete Deficiency of Adenine Phosphoribosyltransferase" 1034:"Adenine phosphoribosyltransferase deficiency in children" 944:(4). Ovid Technologies (Wolters Kluwer Health): 679–688. 860: 858: 927: 925: 923: 921: 1584:"Autosomal recessive: MedlinePlus Medical Encyclopedia" 1380:(2). Springer Science and Business Media LLC: 171–176. 1217:(2). Springer Science and Business Media LLC: 163–168. 1098:(1). Springer Science and Business Media LLC: 105–118. 1044:(4). Springer Science and Business Media LLC: 571–579. 707: 705: 703: 294:
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
2340: 2331: 2232: 2125: 878:(1). Springer Science and Business Media LLC: 102. 475:Adenine phosphoribosyltransferase deficiency is an 193: 180: 159: 146: 134: 126: 118: 105: 80: 60: 26: 21: 1996:Daudon, Michel; Jungers, Paul (October 19, 2004). 1086:Cameron, J. S.; Moro, F.; Simmonds, H. A. (1993). 1772:"APRT deficiency: the need for early diagnosis" 1331:(6). Oxford University Press (OUP): 1909–1915. 370:. No extrarenal symptoms have been documented. 1534:CHEN, CHUNG-JEN; SCHUMACHER, H. RALPH (2009). 1151:"Adenine Phosphoribosyltransferase Deficiency" 679:"Adenine Phosphoribosyltransferase Deficiency" 2501:Inborn errors of purine-pyrimidine metabolism 2305: 1895:(3). Massachusetts Medical Society: 127–132. 1715:Advances in Experimental Medicine and Biology 1479:Advances in Experimental Medicine and Biology 938:Journal of the American Society of Nephrology 8: 2380:Adenine phosphoribosyltransferase deficiency 2258:Adenine phosphoribosyltransferase deficiency 2247:Adenine Phosphoribosyltransferase Deficiency 1003:(3). Baishideng Publishing Group Inc.: 218. 287:of APRT*J results in a full enzyme defiency 204:Adenine phosphoribosyltransferase deficiency 22:Adenine phosphoribosyltransferase deficiency 2466:Dihydropyrimidine dehydrogenase deficiency 2434: 2401:Purine nucleoside phosphorylase deficiency 2337: 2312: 2298: 2290: 2122: 435:can initially present acutely and lead to 71: 41: 18: 2087: 1805: 1787: 1680: 1551: 1336: 1295: 1277: 1166: 1008: 967: 949: 901: 883: 838: 820: 776: 758: 602:and morphologic examination under a 660: 606: allows for the identification of 499:, encompasses 2.8 kb of DNA, and has a 681:. University of Washington, Seattle. 7: 447:which causes urine supersaturation, 2060:American Journal of Kidney Diseases 1428:American Journal of Kidney Diseases 1325:Nephrology Dialysis Transplantation 1266:American Journal of Transplantation 14: 2348:Adenylosuccinate lyase deficiency 997:World Journal of Clinical Urology 809:Journal of Clinical Investigation 747:Journal of Clinical Investigation 489:adenine phosphoribosyltransferase 254:adenine phosphoribosyltransferase 239:Adenine phosphoribosyltransferase 221:(APRT) catalyzes the creation of 219:Adenine phosphoribosyltransferase 35:2,8 Dihydroxyadenine urolithiasis 1682:10.1111/j.1523-1755.2005.00487.x 552:5-phosphoribosyl-1-pyrophosphate 416:crystals precipitate inside the 405:with a partial APRT deficiency. 231:5-phosphoribosyl-1-pyrophosphate 1889:New England Journal of Medicine 2396:Adenosine deaminase deficiency 1841:(1). Informa UK Limited: 1–7. 1272:(11). Elsevier BV: 2623–2632. 1: 2491:Autosomal recessive disorders 2325:purine–pyrimidine metabolism 2112:Rare Kidney Stone Consortium 1949:(3). S. Karger AG: 174–178. 1724:10.1007/978-1-4757-0390-0_18 1626:10.1016/0027-5107(93)90014-7 1488:10.1007/978-1-4684-3294-7_40 546:catalyzes the conversion of 2066:(3). Elsevier BV: 431–438. 1901:10.1056/nejm197707212970302 1675:(3). Elsevier BV: 938–947. 1620:(2). Elsevier BV: 217–225. 1540:The Journal of Rheumatology 1434:(3). Elsevier BV: 473–480. 213:caused by mutations of the 2517: 2072:10.1053/j.ajkd.2015.10.023 2008:(2). S. Karger AG: 31–36. 991:BollĂ©e, Guillaume (2014). 560:5′-adenosine monophosphate 506:There is no evidence that 155:and kidney stone analysis. 122:Infancy to late adulthood. 89:and urinary tract stones, 1847:10.3109/00365518009091520 1050:10.1007/s00467-011-2037-0 380:renal replacement therapy 306:, kidney stone analysis, 166:Uric acid nephrolithiasis 49: 40: 1943:Urologia Internationalis 1782:. BMJ: bcr–2018–225742. 885:10.1186/1471-2369-15-102 526:All tissues express the 491:(APRT) gene is found on 424:as well as cause severe 368:Urinary tract infections 91:Urinary tract infections 1789:10.1136/bcr-2018-225742 1440:10.1053/ajkd.2001.26826 556:inorganic pyrophosphate 451:, and precipitation of 227:adenosine monophosphate 112:End-stage renal disease 1010:10.5410/wjcu.v3.i3.218 951:10.1681/asn.2009080808 578:and becomes extremely 568:xanthine dehydrogenase 538:biosynthesis sources. 472: 401:have been reported in 364:chronic kidney disease 328:chronic kidney disease 256:make large amounts of 161:Differential diagnosis 99:chronic kidney disease 2430:Pyrimidine metabolism 2117:UK Kidney Association 1553:10.3899/jrheum.081051 624:polarizing microscopy 600:infrared spectroscopy 466: 174:Primary hyperoxaluria 2371:Lesch–Nyhan syndrome 1669:Kidney International 1168:10.2215/cjn.02320312 1092:Pediatric Nephrology 1038:Pediatric Nephrology 258:2,8-Dihydroxyadenine 495:q24, contains five 477:autosomal recessive 445:acute renal failure 374:cases present with 360:acute kidney injury 208:autosomal recessive 2363:Nucleotide salvage 2233:External resources 2002:Nephron Physiology 1386:10.1007/bf00283377 1338:10.1093/ndt/gfp711 1223:10.1007/bf00591080 1104:10.1007/bf00861588 649:Nucleotide salvage 473: 334:Signs and symptoms 330:in most patients. 211:metabolic disorder 130:Type 1 and type 2. 95:blood in the urine 2478: 2477: 2474: 2473: 2424: 2423: 2333:Purine metabolism 2287: 2286: 2014:10.1159/000080261 1955:10.1159/000281332 1733:978-1-4757-0392-4 1497:978-1-4684-3296-1 1279:10.1111/ajt.12926 822:10.1172/jci113408 760:10.1172/jci113219 719:. October 1, 2012 644:Purine metabolism 534:from dietary and 384:kidney transplant 250:Genetic mutations 201: 200: 148:Diagnostic method 138:Mutations in the 16:Medical condition 2508: 2435: 2338: 2314: 2307: 2300: 2291: 2123: 2101: 2091: 2041: 2040: 2038: 2036: 1993: 1982: 1981: 1979: 1977: 1934: 1928: 1927: 1925: 1923: 1880: 1874: 1873: 1871: 1869: 1826: 1820: 1819: 1809: 1791: 1776:BMJ Case Reports 1767: 1761: 1760: 1758: 1756: 1709: 1703: 1702: 1684: 1659: 1653: 1652: 1650: 1648: 1605: 1599: 1598: 1596: 1594: 1580: 1574: 1573: 1555: 1546:(5): 1090–1091. 1531: 1525: 1524: 1522: 1520: 1473: 1467: 1466: 1464: 1462: 1419: 1413: 1412: 1410: 1408: 1365: 1359: 1358: 1340: 1316: 1310: 1309: 1299: 1281: 1256: 1250: 1249: 1247: 1245: 1202: 1196: 1195: 1193: 1191: 1170: 1146: 1131: 1130: 1128: 1126: 1083: 1077: 1076: 1074: 1072: 1029: 1023: 1022: 1012: 988: 982: 981: 971: 953: 929: 916: 915: 905: 887: 862: 853: 852: 842: 824: 800: 791: 790: 780: 762: 738: 729: 728: 726: 724: 709: 698: 697: 695: 693: 674: 616:dihydroxyadenine 608:dihydroxyadenine 604:stereomicroscope 592:dihydroxyadenine 576:renal parenchyma 572:dihydroxyadenine 510:correlates with 453:dihydroxyadenine 430:Dihydroxyadenine 414:Dihydroxyadenine 322:and can prevent 304:urine microscopy 296:dihydroxyadenine 153:Urine microscopy 76: 75: 51:Dihydroxyadenine 45: 19: 2516: 2515: 2511: 2510: 2509: 2507: 2506: 2505: 2496:Kidney diseases 2481: 2480: 2479: 2470: 2454: 2450:Miller syndrome 2445:Orotic aciduria 2420: 2384: 2357: 2327: 2318: 2288: 2283: 2282: 2228: 2227: 2134: 2108: 2053: 2050: 2048:Further reading 2045: 2044: 2034: 2032: 1995: 1994: 1985: 1975: 1973: 1936: 1935: 1931: 1921: 1919: 1882: 1881: 1877: 1867: 1865: 1828: 1827: 1823: 1769: 1768: 1764: 1754: 1752: 1734: 1711: 1710: 1706: 1661: 1660: 1656: 1646: 1644: 1607: 1606: 1602: 1592: 1590: 1582: 1581: 1577: 1533: 1532: 1528: 1518: 1516: 1498: 1475: 1474: 1470: 1460: 1458: 1421: 1420: 1416: 1406: 1404: 1367: 1366: 1362: 1318: 1317: 1313: 1258: 1257: 1253: 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220: 216: 212: 209: 205: 196: 192: 188: 185: 183: 179: 175: 171: 167: 164: 162: 158: 154: 151: 149: 145: 141: 137: 133: 129: 125: 121: 117: 113: 110: 108: 107:Complications 104: 100: 96: 92: 88: 85: 83: 79: 74: 68: 67:Endocrinology 65: 63: 59: 56: 52: 48: 44: 39: 36: 32: 29: 25: 20: 2379: 2321:Inborn error 2273: 2262: 2251: 2240: 2216: 2205: 2194: 2183: 2168: 2153: 2138: 2063: 2059: 2035:November 29, 2033:. 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Retrieved 632:crystalluria 628:crystalluria 596:kidney stone 589: 525: 505: 486: 474: 443:can trigger 418:interstitium 412: 388: 372: 348:urolithiasis 337: 308:renal biopsy 293: 270: 262:urolithiasis 203: 202: 197:0.4% to 1.2% 34: 30: 2406:Xanthinuria 2242:GeneReviews 1588:MedlinePlus 717:MedlinePlus 612:Biochemical 469:inheritance 441:Dehydration 433:nephropathy 352:nephropathy 320:allopurinol 187:Allopurinol 170:Xanthinuria 119:Usual onset 27:Other names 2485:Categories 2459:Catabolism 2389:Catabolism 2207:DiseasesDB 655:References 554:into  378:requiring 206:is a rare 182:Medication 2438:Anabolism 2341:Anabolism 2223:124274002 2218:SNOMED CT 2080:0272-6386 2022:1660-2137 1963:1423-0399 1909:0028-4793 1855:0036-5513 1798:1757-790X 1742:0065-2598 1691:0085-2538 1634:0027-5107 1562:0315-162X 1506:0065-2598 1448:0272-6386 1394:0340-6717 1347:0931-0509 1288:1600-6135 1231:0340-6717 1177:1555-9041 1112:0931-041X 1058:0931-041X 1019:2219-2816 960:1046-6673 894:1471-2369 831:0021-9738 769:0021-9738 620:uric acid 586:Diagnosis 580:insoluble 536:polyamine 522:Mechanism 512:phenotype 391:uric acid 356:hematuria 194:Frequency 140:APRT gene 62:Specialty 2278:Q4682223 2264:Orphanet 2098:26724837 2030:15499212 1816:30355577 1699:16105024 1570:19435978 1456:11532677 1355:20064951 1306:25307253 1185:22700886 1066:22212387 978:20150536 912:24986359 687:22934314 638:See also 508:genotype 483:Genetics 449:oliguria 342:such as 281:in vitro 260:causing 82:Symptoms 2274:Scholia 2201:C538228 2149:5C55.0Y 2089:4819988 1971:3176201 1863:7367806 1807:6202999 1750:6426269 1642:7685481 1514:4791206 1402:3876264 1297:4560835 1239:3817810 1120:8439471 969:2844298 903:4094445 849:3343350 787:3680503 564:Adenine 548:adenine 540:Adenine 532:adenine 289:in vivo 285:alleles 277:in vivo 273:alleles 235:adenine 2190:614723 2096:  2086:  2078:  2028:  2020:  1969:  1961:  1917:865583 1915:  1907:  1861:  1853:  1814:  1804:  1796:  1748:  1740:  1730:  1697:  1689:  1640:  1632:  1568:  1560:  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1108:ISSN 1073:2023 1062:PMID 1054:ISSN 1015:ISSN 974:PMID 956:ISSN 908:PMID 890:ISSN 845:PMID 827:ISSN 783:PMID 765:ISSN 725:2023 694:2023 683:PMID 558:and 550:and 544:APRT 528:APRT 487:The 420:and 397:and 395:gout 326:and 312:APRT 264:and 233:and 225:and 215:APRT 2269:976 2170:ICD 2155:ICD 2140:ICD 2084:PMC 2068:doi 2010:doi 1951:doi 1897:doi 1893:297 1843:doi 1802:PMC 1784:doi 1720:doi 1677:doi 1622:doi 1618:287 1548:doi 1484:doi 1436:doi 1382:doi 1333:doi 1292:PMC 1274:doi 1219:doi 1163:doi 1100:doi 1046:doi 1005:doi 964:PMC 946:doi 898:PMC 880:doi 835:PMC 817:doi 773:PMC 755:doi 594:by 279:or 252:of 33:or 2487:: 2276:: 2267:: 2256:: 2245:: 2221:: 2210:: 2199:: 2188:: 2177:: 2162:: 2159:10 2147:: 2144:11 2092:. 2082:. 2074:. 2064:67 2062:. 2058:. 2024:. 2016:. 2006:98 2004:. 2000:. 1986:^ 1965:. 1957:. 1947:43 1945:. 1941:. 1911:. 1903:. 1891:. 1887:. 1857:. 1849:. 1839:40 1837:. 1833:. 1810:. 1800:. 1792:. 1778:. 1774:. 1744:. 1736:. 1726:. 1693:. 1685:. 1673:68 1671:. 1667:. 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Index


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
adenine

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