Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency
Other namesAPRT deficiency or 2,8 Dihydroxyadenine urolithiasis
Dihydroxyadenine, an insoluble purine
SpecialtyEndocrinology Edit this on Wikidata
SymptomsKidney and urinary tract stones, Urinary tract infections, blood in the urine, and chronic kidney disease.[1]
ComplicationsEnd-stage renal disease.[2]
Usual onsetInfancy to late adulthood.[2]
TypesType 1[3] and type 2.[4]
CausesMutations in the APRT gene.[2]
Diagnostic methodUrine microscopy and kidney stone analysis.[1]
Differential diagnosisUric acid nephrolithiasis, Xanthinuria, and Primary hyperoxaluria.[1]
MedicationAllopurinol.[1]
Frequency0.4% to 1.2%[1]

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene.[5] Adenine phosphoribosyltransferase (APRT) catalyzes the creation of pyrophosphate and adenosine monophosphate from 5-phosphoribosyl-1-pyrophosphate and adenine. Adenine phosphoribosyltransferase is a purine salvage enzyme. Genetic mutations of adenine phosphoribosyltransferase make large amounts of 2,8-Dihydroxyadenine causing urolithiasis and renal failure.[6]

Adenine phosphoribosyltransferase deficiency has been classified into two types. Type one is caused by mutant alleles of APRT*Q0 and is found in individuals from many different countries. Type one causes a complete deficiency in vivo or in vitro.[3] Type two adenine phosphoribosyltransferase deficiency is caused by mutant alleles of APRT*J results in a full enzyme defiency in vivo but only a partial deficiency in cell extracts. Type two is mainly seen in Japan.[4]

APRT deficiency is often identified by the presence of dihydroxyadenine in urine and kidney stones. Other diagnostic tests for APRT deficiency include urine microscopy, kidney stone analysis, renal biopsy, APRT activity, and genetic testing.[7] Treatment of adenine phosphoribosyltransferase deficiency includes allopurinol and can prevent kidney stones and chronic kidney disease in most patients.[8]

  1. ^ a b c d e Edvardsson, Vidar Orn; Sahota, Amrik; Palsson, Runolfur (September 26, 2019). "Adenine Phosphoribosyltransferase Deficiency". University of Washington, Seattle. PMID 22934314. Retrieved November 30, 2023.
  2. ^ a b c "Adenine phosphoribosyltransferase deficiency: MedlinePlus Genetics". MedlinePlus. October 1, 2012. Retrieved November 30, 2023.
  3. ^ a b Hidaka, Y; Palella, T D; O'Toole, T E; Tarlé, S A; Kelley, W N (November 1, 1987). "Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme". Journal of Clinical Investigation. 80 (5). American Society for Clinical Investigation: 1409–1415. doi:10.1172/jci113219. ISSN 0021-9738. PMC 442397. PMID 3680503.
  4. ^ a b Hidaka, Y; Tarlé, S A; Fujimori, S; Kamatani, N; Kelley, W N; Palella, T D (March 1, 1988). "Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese". Journal of Clinical Investigation. 81 (3). American Society for Clinical Investigation: 945–950. doi:10.1172/jci113408. ISSN 0021-9738. PMC 442550. PMID 3343350.
  5. ^ 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). "Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation". BMC Nephrology. 15 (1). Springer Science and Business Media LLC: 102. doi:10.1186/1471-2369-15-102. ISSN 1471-2369. PMC 4094445. PMID 24986359.
  6. ^ Bollée, Guillaume; Dollinger, Cécile; Boutaud, Lucile; Guillemot, Delphine; Bensman, Albert; Harambat, Jérôme; Deteix, Patrice; Daudon, Michel; Knebelmann, Bertrand; Ceballos-Picot, Irène (2010). "Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency". Journal of the American Society of Nephrology. 21 (4). Ovid Technologies (Wolters Kluwer Health): 679–688. doi:10.1681/asn.2009080808. ISSN 1046-6673. PMC 2844298. PMID 20150536.
  7. ^ Bollée, Guillaume (2014). "Adenine phosphoribosyltransferase deficiency: Leave no stone unturned". World Journal of Clinical Urology. 3 (3). Baishideng Publishing Group Inc.: 218. doi:10.5410/wjcu.v3.i3.218. ISSN 2219-2816.
  8. ^ Harambat, Jérôme; Bollée, Guillaume; Daudon, Michel; Ceballos-Picot, Irène; Bensman, Albert (January 3, 2012). "Adenine phosphoribosyltransferase deficiency in children". Pediatric Nephrology. 27 (4). Springer Science and Business Media LLC: 571–579. doi:10.1007/s00467-011-2037-0. ISSN 0931-041X. PMID 22212387. Retrieved November 29, 2023.