Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.4.2.7 (adenine phosphoribosyltransferase)
 692 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Light microscopy of the urinary sediment from a child suffering from urinary tract disease showed massive crystalluria. Most of the sediment consisted of characteristic round and brownish crystals. 2,8-Dihydroxyadenine was identified in the crystals by means of gas chromatography-mass spectrometry. The diagnosis of adenine phosphoribosyltransferase deficiency was established by the finding of a very low activity of this enzyme in erythrocytes from the patient, and of half the normal activity in the patients. The patient was first treated with a diet low in purine and with a high liquid intake. She stayed symptomless on this regimen, but the crystalluria persisted. On low doses of allopurinol the crystalluria disappeared.
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PMID:Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. 311 37

2,8-Dihydroxyadenine (2,8-DHA) lithiasis is a form of kidney stone previously mistaken for uric acid because of identical reactivity in non-specific tests used routinely in stone analysis. Unlike uric acid, the stones crush easily and do not react with uricase. The biochemical basis for the defect is a deficiency of the enzyme adenine phosphoribosyltransferase (APRT). A complete deficiency has been reported in 29 patients from 11 countries. The number of stone formers reported in Japan (10 homozygotes, 16 heterozygotes) Austria (3), and Switzerland (2) suggests more efficient diagnosis in those countries. The defective enzyme in heterozygotes in Japan is a kinetic mutant demonstrable in intact not lysed cells. 20% of APRT-deficient subjects have been asymptomatic. An equal number have presented in acute renal failure, three of whom are now on dialysis. Formation of the nephrotoxic 2,8-DHA can be prevented by allopurinol. This underlines the importance of early diagnosis, since such severe renal damage should be avoidable.
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PMID:2,8-Dihydroxyadenine lithiasis. 378 4

Adenine phosphoribosyltransferase deficiency is an autosomal recessive purine enzyme defect that causes urolithiasis and, in severe cases, renal failure. Most homozygotes with this disorder were identified by analyses of excreted or surgically removed urinary stones, but some were identified only because they were family members of symptomatic individuals. We report here the detection of adenine phosphoribosyltransferase deficiency in two cases by routine analysis of urinary sediments. 2,8-Dihydroxyadenine-like spherical crystals were observed in the urinary sediment, and a diagnosis of homozygous adenine phosphoribosyltransferase deficiency was confirmed by cellular and molecular methods. A molecular diagnostic system using the polymerase-chain reaction and single-strand conformational polymorphism analysis proved to be a rapid and sensitive method to identify the APRT*J allele, a common mutant allele among the Japanese people. These methods will facilitate identification of symptomatic and asymptomatic individuals with homozygous adenine phosphoribosyltransferase deficiency.
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PMID:Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. 882 2

The family members of 2 formers of 2,8-dihydroxyadenine stones were examined for history, adenine phosphoribosyltransferase (APRT) activity, genotype, urinary sediment, and urinary constituents. The patients' father showed a genotype of APRT*1/APRT*Q0, and their mother showed APRT*1/APRT*J. Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT activities were 4.5% and 4.0% of normal, respectively. 2,8-Dihydroxyadenine crystals could be seen in the urinary sediment. Treatment with allopurinol completely stopped new stone formation for 5 years in patient 1.
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PMID:Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0). 925 72

2,8-Dihydroxyadenine (DHA) lithiasis is a rare type of urinary stone disease and the deficiency of adenine phosphoribosyltransferase (APRT) activity is known to be the cause of this disease. To identify a 2,8-DHA stone is important because this stone is well managed by medical therapy. Regarding a radiological finding, previous reports have considered 2,8-DHA to be radiolucent like uric acid stone. This report is a case of radiopaque 2,8-DHA stone and proposes that the composition of urinary stones should always be investigated for adequate medical treatment.
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PMID:Radiopaque 2,8-dihydroxyadenine lithiasis. 1048 56

2,8-Dihydroxyadenine (2,8-DHA) urolithiasis in people is caused by autosomal recessive mutations in the adenine phosphoribosyltransferase gene (APRT). 2,8-DHA urolithiasis has recently been reported in two dogs, but, to the authors' knowledge, no studies have yet investigated the genetic basis for susceptibility to the development of 2,8-DHA urolithiasis in this species. Our aim was to sequence APRT in dogs affected by 2,8-DHA urolithiasis and compare the results to clinically healthy dogs of similar ancestral lineages. Our hypothesis was that we would identify an autosomal recessive mutation in APRT that is associated with the disease. The case population consisted of six dogs with a history of 2,8-DHA urolithiasis: five Native American Indian Dogs (NAIDs) and a mixed breed. The control population consisted of adult NAIDs with no history of urolithiasis. We sequenced APRT and identified a missense mutation in a highly conserved codon of APRT (c.260G>A; p.Arg87Gln). The c.260A mutation was present in a homozygous state in all six dogs with 2,8-DHA urolithiasis, and it was strongly associated with the disease. This exact missense mutation has been previously reported to cause loss of APRT enzyme function in a human cell line, and it is likely a causative mutation in dogs. Therefore, the dog offers a naturally-occurring genetic animal model for 2,8-DHA urolithiasis.
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PMID:An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. 2435 65