Adenine Phosphoribosyltransferase (APRT) Deficiency: An Inherited Cause of Kidney Stones

Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited condition in which the body cannot recycle one of its own building blocks, adenine. The unused adenine is turned into a substance called 2,8-dihydroxyadenine (2,8-DHA), which dissolves very poorly in urine. It comes out of solution as crystals and stones in the urinary tract, and it also settles inside the kidney tissue itself. A 2026 review describes the results as kidney stones, sudden kidney injury, slowly worsening chronic kidney disease and, "not infrequently, kidney failure" (Edvardsson 2026).

What makes APRT deficiency unusual among inherited stone diseases is that the main harm comes from one molecule that two existing gout medicines can almost switch off. The research on this condition is therefore largely a story about time: how long it takes to be recognised, and what happens to the kidneys in the meantime. This page covers the enzyme, the inheritance, the stones and the kidney damage, the return of the disease in a transplanted kidney, the tests, the diagnostic delay, the treatments reported in the studies, and what is still not known. Adenine itself, once called "vitamin B4", has its own pages on this site, starting at Vitamin B4 (Adenine).

Table of Contents

  1. An Enzyme That Recycles Adenine
  2. How Adenine Becomes 2,8-Dihydroxyadenine
  3. A Recessive Inheritance
  4. How Common It Is
  5. Radiolucent Stones and Other Early Signs
  6. Crystal Damage Inside the Kidney
  7. Return of the Disease in a Transplanted Kidney
  8. How It Is Diagnosed
  9. The Long Road to a Diagnosis
  10. Allopurinol and Febuxostat
  11. Fluid Intake and Other Reported Measures
  12. Outcomes Reported With Treatment
  13. What Is Not Known
  14. Key Research Papers
  15. Connections
  16. Featured Videos

An Enzyme That Recycles Adenine

Every cell constantly breaks down and rebuilds its genetic material and its energy molecules. Adenine is one of the four letters of DNA and RNA and the core of the energy carrier adenosine triphosphate. When these molecules are taken apart, free adenine is left over. Cells do not throw it away; they reuse it through a short "salvage" route, and the enzyme that runs that route for adenine is adenine phosphoribosyltransferase. It joins free adenine back onto a sugar-phosphate carrier, turning it into a nucleotide the cell can use again. The wider picture of how purines such as adenine are made and recycled is on the Purine Metabolism page.

In APRT deficiency this recycling step does not work. The 2010 French series, which its authors describe as the largest published series of the disease to that date, describes the disorder as a rare autosomal recessive condition "causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation" — that is, crystals forming inside the tiny tubes of the kidney (Bollée 2010). A 2012 review of the condition notes that it is the "complete" form of the enzyme defect that leads to the formation and heavy urinary loss of 2,8-DHA (Bollée 2012).

How Adenine Becomes 2,8-Dihydroxyadenine

When adenine cannot be recycled, it builds up and is handled by a different enzyme, xanthine oxidoreductase (also called xanthine oxidase or xanthine dehydrogenase). This is the same enzyme that turns purines into uric acid. Acting on adenine, it adds two oxygen atoms and produces 2,8-DHA. The reviews describe 2,8-DHA as "poorly soluble", with a "low solubility" that "results in precipitation of this compound and the formation of urinary crystals and stones" (Bollée 2012; Thorsteinsdottir 2025).

The direct evidence that this enzyme step is the source of the damage comes from what happens when it is blocked. In a 2025 Icelandic study of 122 paired blood and urine samples from 26 people with confirmed APRT deficiency, treatment with the xanthine oxidoreductase blockers allopurinol and febuxostat lowered blood 2,8-DHA from a median of 249 ng/mL in untreated people to below the limit of detection in those on higher doses — while blood adenine rose (Thorsteinsdottir 2025). In other words, adenine piles up harmlessly when the enzyme is blocked, and the troublesome product disappears.

The same study found that in untreated people, the amount of 2,8-DHA in the blood tracked kidney function closely: the higher the 2,8-DHA, the lower the estimated filtration rate (a correlation coefficient of −0.74). Blood 2,8-DHA did not track urine 2,8-DHA in untreated people, and the authors suggest the blood level "may be a more reliable marker of systemic DHA burden" (Thorsteinsdottir 2025).

How the crystals hurt the kidney has been studied in mice fed extra adenine, which develop the same 2,8-DHA crystal disease. In mice, kidney injury depended on crystal size: the smallest crystals were swallowed by the cells lining the tubules, large crystals blocked whole tubules, and medium-sized crystals were pushed out of the tubules into the surrounding tissue, where inflammation broke them down. The researchers report that kidney biopsies from people with APRT deficiency showed similar findings. In mice, removing a single inflammation receptor (TNF receptor 1) reduced inflammation and eased the course of the disease (Klinkhammer 2020).

A Recessive Inheritance

APRT deficiency is inherited in an autosomal recessive way: a person has the disease only if both copies of the APRT gene, one from each parent, carry a disease-causing change. Parents who each carry one changed copy usually have no symptoms. The GeneReviews chapter on the condition states that at conception each brother or sister of an affected person has "a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being normal" (Edvardsson, GeneReviews). The chapter adds that testing brothers and sisters, by enzyme measurement or by genetic testing once the family's gene changes are known, allows early diagnosis.

Carriers do not seem to make measurable 2,8-DHA. In an Icelandic study using a sensitive laboratory method, 2,8-DHA was found in every urine sample from untreated patients but in none from carriers or healthy controls (Runolfsdottir 2019).

Many different changes in the gene can cause the disease. The French series found 18 distinct mutations; one of them, a single extra letter at a splice site in the gene, accounted for 40.3% of the changed copies found (Bollée 2010). A 2021 survey of the medical literature and six large genetic databases counted 62 disease-causing APRT variants, including six newly described ones (Runolfsdottir 2021).

How Common It Is

APRT deficiency is rare, and most known cases come from a few countries. The 2021 genetic database study found that the most common disease-causing variants differ by region: one in Japan, a different one in Iceland and a third, a splice-site change, in people of European descent. The authors write that "the large number of cases in Japan and Iceland is consistent with a founder effect" — the variant was carried by an early ancestor and spread through a small population (Runolfsdottir 2021).

In Iceland, a 2001 study identified 23 people with the disease in 16 families between 1983 and 1998, and every one of them carried two copies of the same change (D65V) in the APRT gene (Edvardsson 2001).

Whether the condition is often missed is debated in the research. The 2010 French series found the common European splice-site change in two of 204 chromosomes from healthy newborns (0.98%) and concluded that its report "highlights the underdiagnosis and potential severity of this disease" (Bollée 2010). A 2014 French review was titled "a not so rare inborn error of purine metabolism" (Ceballos-Picot 2014). The 2021 database study reached a different conclusion: outside Japan and Iceland, the highest combined frequency of disease-causing variants was in the Irish population (0.2%), though no cases have been reported in Ireland, and the authors found "no evidence for widespread underdiagnosis" (Runolfsdottir 2021).

Radiolucent Stones and Other Early Signs

The most common way APRT deficiency shows itself is a kidney stone. Stones made of 2,8-DHA are radiolucent: they let X-rays pass through and do not show on a plain abdominal X-ray, the way calcium stones do. The 2026 review lists the signs that, in the authors' view, call for the condition to be considered: children with renal colic (the cramping pain of a passing stone), radiolucent urinary stones or sudden kidney injury; infants with a history of reddish-brown stains in the diaper; any person with radiolucent stones; and young and middle-aged adults whose kidney function is falling, especially when a kidney biopsy shows damage of unknown cause in the tissue around the tubules (Edvardsson 2026).

The Icelandic study of 23 patients gives a sense of how varied the picture is. Eighteen had symptoms, 15 of them kidney stones; 4 had mild to moderate loss of kidney function, 1 had advanced kidney failure and 1 died of uremic complications. Six had repeated urinary tract infections and 3 infants had reddish-brown diaper stains. Five had no symptoms at all and were found by routine urine testing or family screening (Edvardsson 2001).

Symptoms can appear at any age. GeneReviews states that in at least 50% of affected people symptoms do not appear until adulthood (Edvardsson, GeneReviews), and the 2026 review notes that "a significant proportion of affected individuals remain asymptomatic into adulthood" (Edvardsson 2026). A United Kingdom survey of 20 patients identified since 1974 found ages at diagnosis from 2 to 70 years, with a mean of 25 (Balasubramaniam 2016).

The stones can be mistaken for other stone types. An early 1978 case report from London was titled "Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis" (Simmonds 1978). Uric acid stones are also radiolucent, which is why the two are easy to confuse without proper stone analysis.

Crystal Damage Inside the Kidney

Stones are only half the story. 2,8-DHA crystals also settle inside the kidney tissue, a condition called 2,8-DHA crystal nephropathy. This can cause sudden drops in kidney function and a slow, permanent loss of working kidney tissue — sometimes without any stone ever being noticed.

The largest long-term study comes from the APRT Deficiency Registry of the Rare Kidney Stone Consortium. Of 53 patients, followed for a median of 10.3 years, the median age at diagnosis was 37. At diagnosis 29 (55%) had already had kidney stones and 20 (38%) had chronic kidney disease stages 3 to 5, including 11 (21%) at stage 5, the stage of kidney failure. By the latest follow-up, 33 (62%) had had kidney stones, 18 (34%) sudden kidney injury and 22 (42%) chronic kidney disease stages 3 to 5. Fourteen (26%) had reached stage 5, and 12 of them had started dialysis or received a transplant. The authors write that "advanced CKD without a history of kidney stones is more prevalent than previously reported" (Runolfsdottir 2016).

The French series found much the same. Of 40 patients with full clinical data, 14 (35%) already had reduced kidney function at diagnosis, and 6 (15%) were only diagnosed after reaching end-stage kidney disease. Eight (20%) reached end-stage kidney disease during a median follow-up of 74 months (Bollée 2010). GeneReviews states that without adequate treatment roughly 20% to 25% of affected people develop end-stage kidney disease, usually in adult life (Edvardsson, GeneReviews). In the United Kingdom survey, 5 of the 20 patients had died, 3 of them after end-stage kidney disease, and the authors report that "outcome is poor in late diagnosis" (Balasubramaniam 2016).

Return of the Disease in a Transplanted Kidney

A new kidney does not fix the underlying problem, because the excess 2,8-DHA comes from the whole body, not from the kidneys. The crystals can form again in the transplanted kidney. In a 2014 report of nine patients whose crystal disease came back in the new kidney, the diagnosis had been missed in every one of them before the transplant; it was made a median of 5 weeks (range 1.5 to 312 weeks) after surgery. Biopsies of the transplanted kidneys showed 2,8-DHA crystals inside the tubules, within the lining cells and in the surrounding tissue. With allopurinol, transplant function improved in 7, stayed stable in 1 and worsened in 1; at last follow-up 2 patients had lost the transplant and 5 had lasting reduced function. The authors call it "a rare but underdiagnosed and preventable disorder that can recur in the renal allograft" (Zaidan 2014). In the French series, five of the six diagnoses made after end-stage kidney disease were made when the disease recurred in a transplanted kidney (Bollée 2010).

A 2020 study of 17 patients from the registry and from hospitals in Sydney and Paris, who received 22 kidney transplants between them, compared transplants in people who had started a xanthine oxidoreductase blocker before the operation with those who had not. Two-year transplant survival was 91% in the treated group and 55% in the untreated group, a difference that did not reach statistical significance (P = 0.16). Kidney function at two years was clearly different: a median estimated filtration rate of 61.3 mL/min/1.73 m² when treatment began before the transplant, against 16.2 when it did not (P = 0.009). The authors conclude that "delay in such treatment is a major cause of premature graft loss in these patients" (Runolfsdottir 2020). The 2026 review reports that transplant outcomes in APRT deficiency are comparable to those for other causes of kidney failure when allopurinol or febuxostat is started before the transplant (Edvardsson 2026).

How It Is Diagnosed

The reviews describe several tests, which do different jobs.

Urine microscopy

Looking at a urine sample under a microscope can show the typical 2,8-DHA crystals. GeneReviews describes them as "round, brown" crystals and states that finding them is "highly suggestive of the disorder" (Edvardsson, GeneReviews). In the Icelandic study, urine 2,8-DHA crystals were found in every patient except the one who had died of kidney failure (Edvardsson 2001).

Enzyme test

The activity of the APRT enzyme can be measured in red blood cells. GeneReviews states that the diagnosis is established by an absence of APRT enzyme activity in red cell samples or by finding disease-causing changes in both copies of the gene (Edvardsson, GeneReviews). In a French study of 21 children, all had no measurable APRT activity in their red blood cells (Harambat 2012).

Genetic test

The 2026 review states that finding disease-causing changes in both copies of the APRT gene, through a multi-gene panel or a single-gene test, confirms the diagnosis (Edvardsson 2026).

Stone analysis and its pitfalls

Stone analysis by infrared spectroscopy is a common first clue, but it can be wrong. Of 14 patients referred to the Rare Kidney Stone Consortium with a diagnosis of APRT deficiency based on stone analysis, the diagnosis was confirmed in 7 and rejected in the other 7. The authors conclude that standard stone-analysis protocols "cannot be considered reliable for the identification of DHA stones" and that the diagnosis has to be confirmed by other methods (Runolfsdottir 2020, Urolithiasis). The 2026 review likewise states that stone analysis can only be considered suggestive and that confirmatory testing is needed in every case (Edvardsson 2026).

Measuring 2,8-DHA in urine

A newer laboratory method measures 2,8-DHA directly. In untreated patients the median 24-hour urine excretion was 138 mg (range 64 to 292 mg), and a single first-morning urine sample correlated closely with the full 24-hour collection (correlation coefficient 0.84). 2,8-DHA was undetectable in carriers and healthy controls, and the authors suggest the method can be used for diagnosis (Runolfsdottir 2019).

The Long Road to a Diagnosis

Each of the large case series describes people diagnosed years after their first symptoms. The French series found that "in many patients, a several-year delay separated the onset of symptoms and diagnosis", with a median age at diagnosis of 36.3 years (range 0.5 to 78 years) (Bollée 2010). The registry study reported a median age at diagnosis of 37 (Runolfsdottir 2016), and the Icelandic study 37 years (range 0.5 to 62) (Edvardsson 2001).

Several reasons for the delay appear in the research. The stones do not show on plain X-rays and resemble uric acid stones (Simmonds 1978). Stone analysis can be wrong in both directions (Runolfsdottir 2020, Urolithiasis). Many people have no symptoms until adulthood, and some first come to attention only with failing kidneys (Runolfsdottir 2016; Edvardsson 2026). A French review states that "the lack of recognition of this metabolic disorder frequently resulted in a delay in diagnosis and treatment with grave consequences" (Ceballos-Picot 2014). The 2012 review puts it this way: the tests "make the diagnosis easy to confirm when APRT deficiency is suspected", but "the disease can present at any age, and the variability of symptoms can present a diagnostic challenge to many physicians" (Bollée 2012).

The cost of the delay shows most clearly in transplant patients: in all nine of the 2014 recurrence cases, the condition had not been recognised before the transplant (Zaidan 2014).

Allopurinol and Febuxostat

The treatment described in the research is a medicine that blocks xanthine oxidoreductase, the enzyme that turns adenine into 2,8-DHA. Two are in use: allopurinol, the older drug, and febuxostat. Both are better known as treatments for gout, where they lower uric acid; the story of how allopurinol was developed is on the Black, Elion & Hitchings page. The 2026 review reports that timely diagnosis and treatment with either drug have, "in several studies, based on different levels of evidence, been found to be both highly effective and safe" (Edvardsson 2026).

The two head-to-head trials

Two small Icelandic trials compared the drugs directly. In a 2018 pilot trial, 8 of 10 invited patients completed the study. The trial gave allopurinol 400 mg a day and febuxostat 80 mg a day. Median 24-hour urine 2,8-DHA fell from 116 mg at baseline to 45 mg after 14 days of allopurinol. At the end of the febuxostat period, 4 patients had urine 2,8-DHA below the detectable limit, compared with none after allopurinol; the other 4 had a median of 13.2 mg. The authors found febuxostat "significantly more efficacious than allopurinol in reducing DHA excretion in the prescribed doses" and note that the finding needs confirming in a larger sample (Edvardsson 2018).

A 2025 randomised crossover trial gave allopurinol 400 and 800 mg a day and febuxostat 40 and 80 mg a day. Of 12 adults who started, 7 completed it. Off treatment, median blood 2,8-DHA was 300 ng/mL. On allopurinol 400 mg it was 25 ng/mL, and on allopurinol 800 mg and febuxostat 40 mg the median was below the limit of detection; on febuxostat 80 mg 2,8-DHA was undetectable in every blood sample tested. The urine 2,8-DHA-to-creatinine ratio fell from a median of 8.18 mg/mmol off treatment to 1.90 and 0.35 on the two allopurinol doses, 0.54 on febuxostat 40 mg, and below the limit of detection on febuxostat 80 mg. The authors conclude that both drugs lowered 2,8-DHA markedly, and that febuxostat was more effective at both doses tested (Runolfsdottir 2025).

Points from GeneReviews

The GeneReviews chapter states that treatment with allopurinol or febuxostat "can improve kidney function, even in individuals with advanced CKD", and that the usual dose is not routinely reduced in people with impaired kidney function. It also lists two drugs, azathioprine and mercaptopurine, as not to be given to people taking either allopurinol or febuxostat, and it notes that the safety of allopurinol and febuxostat in human pregnancy "has not been systematically studied". After a kidney transplant, the chapter states that treatment with a xanthine oxidoreductase blocker is still recommended (Edvardsson, GeneReviews).

Fluid Intake and Other Reported Measures

Alongside medicine, GeneReviews states that "ample fluid intake is advised" (Edvardsson, GeneReviews). More water dilutes the urine, so a poorly soluble substance is less likely to come out of solution as crystals. The research read for this page did not measure fluid intake on its own as a treatment for APRT deficiency, and gives no figure for how much fluid makes a difference.

Stones that are already present are dealt with in the usual way. GeneReviews states that surgical management of 2,8-DHA stones "is the same as for other types of kidney stones", and that end-stage kidney disease is treated with dialysis and kidney transplantation (Edvardsson, GeneReviews). The options for removing stones are described on the Kidney Stones page.

For follow-up, the chapter describes measuring kidney function and urine 2,8-DHA (or checking urine for crystals under the microscope) every 6 to 12 months, follow-up at least once a year, and periodic kidney ultrasound to look for new stones that cause no symptoms (Edvardsson, GeneReviews).

Outcomes Reported With Treatment

The studies consistently report better kidney outcomes when treatment starts early, although none of them is a long randomised trial against no treatment.

What Is Not Known

Key Research Papers

  1. Edvardsson VO, Runolfsdottir HL, Palsson R. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria. Pediatr Nephrol. 2026;41(10):3263-3273. PubMed PMID: 41820602
  2. Thorsteinsdottir UA, Runolfsdottir HL, Edvardsson VO, Thorsteinsdottir M, Palsson R. Correlation of Plasma and Urine 2,8-Dihydroxyadenine and Adenine and Clinical Characteristics in Individuals With Adenine Phosphoribosyltransferase Deficiency. J Inherit Metab Dis. 2025;48(4):e70054. PubMed PMID: 40611456
  3. Runolfsdottir HL, Palsson R, Agustsdottir IMS, Indridason OS, Li J, Dao M, Knebelmann B, Milliner DS, Edvardsson VO. Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency. Transplantation. 2020;104(10):2120-2128. PubMed PMID: 31880754
  4. Edvardsson VO, Sahota A, Palsson R. Adenine Phosphoribosyltransferase Deficiency. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 2012 Aug 30 [updated 2019 Sep 26]. PubMed PMID: 22934314
  5. Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO. Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. Am J Kidney Dis. 2016;67(3):431-8. PubMed PMID: 26724837
  6. Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21(4):679-88. PubMed PMID: 20150536
  7. Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012;7(9):1521-7. PubMed PMID: 22700886
  8. Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R. Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. Eur J Intern Med. 2018;48:75-79. PubMed PMID: 29241594
  9. Runolfsdottir HL, Thorsteinsdottir UA, Johannesdottir S, Oskarsdottir T, Agustsdottir IMS, Thorsteinsdottir M, Palsson R, Edvardsson VO. Comparison of the effect of allopurinol and febuxostat on 2,8-dihydroxyadenine in plasma and urine: a clinical trial. J Nephrol. 2025;38(9):2831-2839. PubMed PMID: 40883485
  10. Runolfsdottir HL, Lin TL, Goldfarb DS, Sayer JA, Michael M, Ketteridge D, Rich PR, Edvardsson VO, Palsson R. Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. Urolithiasis. 2020;48(4):337-344. PubMed PMID: 32399606
  11. Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. Eur J Hum Genet. 2021;29(7):1061-1070. PubMed PMID: 33707627
  12. Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO. Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects. Mol Genet Metab. 2019;128(1-2):144-150. PubMed PMID: 31378568
  13. Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A. Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol. 2012;27(4):571-9. PubMed PMID: 22212387
  14. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis. 2001;38(3):473-80. PubMed PMID: 11532677
  15. Zaidan M, Palsson R, Merieau E, Cornec-Le Gall E, Garstka A, Maggiore U, Deteix P, Battista M, Gagné ER, Ceballos-Picot I, Duong Van Huyen JP, Legendre C, Daudon M, Edvardsson VO, Knebelmann B. Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure. Am J Transplant. 2014;14(11):2623-32. PubMed PMID: 25307253
  16. Balasubramaniam GS, Arenas-Hernandez M, Escuredo E, Fairbanks L, Marinaki T, Mapplebeck S, Sheaff M, Almond MK. Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey. Clin Kidney J. 2016;9(6):800-806. PubMed PMID: 27994857
  17. Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G. 2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. PubMed PMID: 24940675
  18. Klinkhammer BM, Djudjaj S, Kunter U, Palsson R, Edvardsson VO, Wiech T, Thorsteinsdottir M, Hardarson S, Foresto-Neto O, Mulay SR, Moeller MJ, Jahnen-Dechent W, Floege J, Anders HJ, Boor P. Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy. J Am Soc Nephrol. 2020;31(4):799-816. PubMed PMID: 32086278
  19. Simmonds HA, Potter CF, Sahota A, Cameron JS, Rose GA, Barratt TM, Williams DI, Arkell DG, Van Acker KJ. Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis. J R Soc Med. 1978;71(11):791-5. PubMed PMID: 731641

PubMed Topic Searches

  1. PubMed: adenine phosphoribosyltransferase deficiency
  2. PubMed: 2,8-dihydroxyadenine nephropathy
  3. PubMed: 2,8-dihydroxyadenine, febuxostat and allopurinol
  4. PubMed: APRT deficiency and kidney transplantation
  5. PubMed: 2,8-dihydroxyadenine stone analysis

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