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Inborn disorder of purine metabolism

MedGen UID:
977482
•Concept ID:
CN294207
•
Disease or Syndrome
Synonyms: disorder of purine metabolism; Disorder of purine metabolism; inborn disorder of purine metabolism; inborn error of purine nucleobase metabolic process; inborn purine nucleobase metabolic process disorder; rare inborn error of purine nucleobase metabolic process
 
Monarch Initiative: MONDO:0019236
Orphanet: ORPHA79191

Definition

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of purine metabolism

Professional guidelines

PubMed

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ
J Inherit Metab Dis 2017 Jan;40(1):5-20. Epub 2016 Sep 26 doi: 10.1007/s10545-016-9972-7. PMID: 27671891Free PMC Article
Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease.
Roberts RL, Barclay ML
J Gastroenterol Hepatol 2012 Oct;27(10):1546-54. doi: 10.1111/j.1440-1746.2012.07220.x. PMID: 22741564
Management of autoimmune hepatitis.
Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411

Recent clinical studies

Etiology

Epigenetic Upregulation of H19 and AMPK Inhibition Concurrently Contribute to S-Adenosylhomocysteine Hydrolase Deficiency-Promoted Atherosclerotic Calcification.
Dai X, Liu S, Cheng L, Huang T, Guo H, Wang D, Xia M, Ling W, Xiao Y
Circ Res 2022 May 13;130(10):1565-1582. Epub 2022 Apr 12 doi: 10.1161/CIRCRESAHA.121.320251. PMID: 35410483
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.
Jurecka A, Tylki-Szymanska A
Mol Genet Metab 2022 Jul;136(3):164-176. Epub 2022 Feb 19 doi: 10.1016/j.ymgme.2022.02.007. PMID: 35216884
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451
Mitochondrial disorders of the OXPHOS system.
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article

Diagnosis

Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Disorders of purine biosynthesis metabolism.
Dewulf JP, Marie S, Nassogne MC
Mol Genet Metab 2022 Jul;136(3):190-198. Epub 2021 Dec 30 doi: 10.1016/j.ymgme.2021.12.016. PMID: 34998670
Mitochondrial disorders of the OXPHOS system.
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Torres RJ, Puig JG
Orphanet J Rare Dis 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. PMID: 18067674Free PMC Article

Therapy

Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Renal effects of uric acid: hyperuricemia and hypouricemia.
Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Reducing risk in thiopurine therapy.
Marinaki AM, Arenas-Hernandez M
Xenobiotica 2020 Jan;50(1):101-109. Epub 2019 Nov 12 doi: 10.1080/00498254.2019.1688424. PMID: 31682552
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
Xanthine urolithiasis.
Pais VM Jr, Lowe G, Lallas CD, Preminger GM, Assimos DG
Urology 2006 May;67(5):1084.e9-11. doi: 10.1016/j.urology.2005.10.057. PMID: 16698380

Prognosis

Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic.
Yang H, Zhao C, Tang MC, Wang Y, Wang SP, Allard P, Furtos A, Mitchell GA
Mol Genet Metab 2019 Sep-Oct;128(1-2):30-44. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.002. PMID: 31186158
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886

Clinical prediction guides

Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Renal effects of uric acid: hyperuricemia and hypouricemia.
Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
Management of autoimmune hepatitis.
Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411

Recent systematic reviews

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880Free PMC Article

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