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Inborn disorder of ornithine metabolism

MedGen UID:
575181
Concept ID:
C0342690
Disease or Syndrome
Synonyms: Disorder of ornithine metabolism; disorder of ornithine metabolism; inborn disorder of ornithine metabolism; inborn error of ornithine metabolic process; inborn ornithine metabolic process disorder; Ornithine metabolism disorder; rare inborn error of ornithine metabolic process
SNOMED CT: Ornithine metabolism disorder (237928008); Disorder of ornithine metabolism (237928008)
 
Monarch Initiative: MONDO:0017356
Orphanet: ORPHA289869

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of ornithine metabolism
Follow this link to review classifications for Inborn disorder of ornithine metabolism in Orphanet.

Professional guidelines

PubMed

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J Inherit Metab Dis 2019 Nov;42(6):1192-1230. Epub 2019 May 15 doi: 10.1002/jimd.12100. PMID: 30982989
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Nakamura K, Kido J, Mitsubuchi H, Endo F
Pediatr Int 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439. PMID: 25039902

Recent clinical studies

Etiology

Summar ML, Mew NA
Pediatr Clin North Am 2018 Apr;65(2):231-246. Epub 2018 Feb 2 doi: 10.1016/j.pcl.2017.11.004. PMID: 29502911
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Guerra GP, Rubin MA, Mello CF
Pharmacol Res 2016 Oct;112:99-118. Epub 2016 Mar 22 doi: 10.1016/j.phrs.2016.03.023. PMID: 27015893
Helman G, Pacheco-Colón I, Gropman AL
Semin Neurol 2014 Jul;34(3):341-9. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386771. PMID: 25192511
Vaidyanathan K
Indian J Biochem Biophys 2013 Oct;50(5):357-62. PMID: 24772957

Diagnosis

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J Inherit Metab Dis 2019 Nov;42(6):1192-1230. Epub 2019 May 15 doi: 10.1002/jimd.12100. PMID: 30982989
Summar ML, Mew NA
Pediatr Clin North Am 2018 Apr;65(2):231-246. Epub 2018 Feb 2 doi: 10.1016/j.pcl.2017.11.004. PMID: 29502911
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Sin YY, Baron G, Schulze A, Funk CD
J Mol Med (Berl) 2015 Dec;93(12):1287-96. Epub 2015 Oct 14 doi: 10.1007/s00109-015-1354-3. PMID: 26467175
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

Therapy

Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P
Orphanet J Rare Dis 2023 Jul 21;18(1):207. doi: 10.1186/s13023-023-02800-8. PMID: 37480106Free PMC Article
Pritchard AB, Izumi K, Payan-Walters I, Yudkoff M, Rand EB, Bhoj E
Am J Med Genet A 2022 May;188(5):1443-1447. Epub 2022 Jan 23 doi: 10.1002/ajmg.a.62659. PMID: 35068050
Balfoort BM, Buijs MJN, Ten Asbroek ALMA, Bergen AAB, Boon CJF, Ferreira EA, Houtkooper RH, Wagenmakers MAEM, Wanders RJA, Waterham HR, Timmer C, van Karnebeek CD, Brands MM
Mol Genet Metab 2021 Sep-Oct;134(1-2):96-116. Epub 2021 Jul 26 doi: 10.1016/j.ymgme.2021.07.010. PMID: 34340878
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group
Ann Neurol 2019 Jul;86(1):116-128. Epub 2019 May 13 doi: 10.1002/ana.25492. PMID: 31018246Free PMC Article
Berraondo P, Martini PGV, Avila MA, Fontanellas A
Gut 2019 Jul;68(7):1323-1330. Epub 2019 Feb 22 doi: 10.1136/gutjnl-2019-318269. PMID: 30796097

Prognosis

Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K
J Hum Genet 2019 Sep;64(9):833-847. Epub 2019 May 20 doi: 10.1038/s10038-019-0614-4. PMID: 31110235
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Nakamura K, Kido J, Mitsubuchi H, Endo F
Pediatr Int 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439. PMID: 25039902
Vaidyanathan K
Indian J Biochem Biophys 2013 Oct;50(5):357-62. PMID: 24772957
Batshaw ML
Ann Neurol 1994 Feb;35(2):133-41. doi: 10.1002/ana.410350204. PMID: 7906500

Clinical prediction guides

Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article
Billingham MJ, Rizk R
BMJ Case Rep 2021 Jul 1;14(7) doi: 10.1136/bcr-2020-241424. PMID: 34210698Free PMC Article
Alhonen L, Uimari A, Pietilä M, Hyvönen MT, Pirinen E, Keinänen TA
Essays Biochem 2009 Nov 4;46:125-44. doi: 10.1042/bse0460009. PMID: 20095974
Saudubray JM, Rabier D
J Nutr 2007 Jun;137(6 Suppl 2):1669S-1672S. doi: 10.1093/jn/137.6.1669S. PMID: 17513445
Bachmann C
J Inherit Metab Dis 1992;15(4):578-91. doi: 10.1007/BF01799616. PMID: 1528018

Recent systematic reviews

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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