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Hereditary orotic aciduria

MedGen UID:
472940
•Concept ID:
C0220987
•
Disease or Syndrome
Synonym: Hereditary Orotic Aciduria
SNOMED CT: Hereditary orotic aciduria (16242007)

Definition

An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5''-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary orotic aciduria

Recent clinical studies

Etiology

Inborn errors of pyrimidine metabolism: clinical update and therapy.
Balasubramaniam S, Duley JA, Christodoulou J
J Inherit Metab Dis 2014 Sep;37(5):687-98. Epub 2014 Jul 17 doi: 10.1007/s10545-014-9742-3. PMID: 25030255
Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography-tandem mass spectrometry.
D'Apolito O, Garofalo D, la Marca G, Dello Russo A, Corso G
J Chromatogr B Analyt Technol Biomed Life Sci 2012 Feb 1;883-884:155-60. Epub 2011 Oct 6 doi: 10.1016/j.jchromb.2011.09.054. PMID: 22019295
Pyrimidine metabolism in hereditary orotic aciduria.
Sumi S, Suchi M, Kidouchi K, Morishita H, Ohba S, Wada Y
J Inherit Metab Dis 1997 Mar;20(1):104-5. doi: 10.1023/a:1005330127995. PMID: 9061575

Diagnosis

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors
J Inherit Metab Dis 2017 May;40(3):423-431. Epub 2017 Feb 15 doi: 10.1007/s10545-017-0015-9. PMID: 28205048Free PMC Article
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.
Med Lett Drugs Ther 2016 Mar 28;58(1491):e49. PMID: 27027693
Inborn errors of pyrimidine metabolism: clinical update and therapy.
Balasubramaniam S, Duley JA, Christodoulou J
J Inherit Metab Dis 2014 Sep;37(5):687-98. Epub 2014 Jul 17 doi: 10.1007/s10545-014-9742-3. PMID: 25030255
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.
Chen J, Bennett MJ
Methods Mol Biol 2010;603:445-51. doi: 10.1007/978-1-60761-459-3_43. PMID: 20077096
Diagnostic value of urinary orotic acid levels: applicable separation methods.
Salerno C, Crifò C
J Chromatogr B Analyt Technol Biomed Life Sci 2002 Dec 5;781(1-2):57-71. doi: 10.1016/s1570-0232(02)00533-0. PMID: 12450653

Therapy

Therapeutic potential of uracil and its derivatives in countering pathogenic and physiological disorders.
Ramesh D, Vijayakumar BG, Kannan T
Eur J Med Chem 2020 Dec 1;207:112801. Epub 2020 Sep 5 doi: 10.1016/j.ejmech.2020.112801. PMID: 32927231
Hereditary Orotic Aciduria and the Excretion of Orotidine.
Nyhan WL, Gangoiti JA
Neuropediatrics 2016 Dec;47(6):408-409. Epub 2016 Aug 30 doi: 10.1055/s-0036-1587594. PMID: 27574833
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.
Med Lett Drugs Ther 2016 Mar 28;58(1491):e49. PMID: 27027693
Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.
Simmonds HA, Webster DR, Becroft DM, Potter CF
Eur J Clin Invest 1980 Aug;10(4):333-9. doi: 10.1111/j.1365-2362.1980.tb00041.x. PMID: 6775961
Hereditary orotic aciduria.
Soutter GB, Yu J, Lovric A, Stapleton T
Aust Paediatr J 1970 Mar;6(1):47-52. doi: 10.1111/j.1440-1754.1970.tb02858.x. PMID: 5520435

Prognosis

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors
J Inherit Metab Dis 2017 May;40(3):423-431. Epub 2017 Feb 15 doi: 10.1007/s10545-017-0015-9. PMID: 28205048Free PMC Article
Pyrimidine metabolism in hereditary orotic aciduria.
Sumi S, Suchi M, Kidouchi K, Morishita H, Ohba S, Wada Y
J Inherit Metab Dis 1997 Mar;20(1):104-5. doi: 10.1023/a:1005330127995. PMID: 9061575
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
BECROFT DM, PHILLIPS LI
Br Med J 1965 Feb 27;1(5434):547-52. doi: 10.1136/bmj.1.5434.547. PMID: 14243056Free PMC Article

Clinical prediction guides

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors
J Inherit Metab Dis 2017 May;40(3):423-431. Epub 2017 Feb 15 doi: 10.1007/s10545-017-0015-9. PMID: 28205048Free PMC Article
Hereditary Orotic Aciduria and the Excretion of Orotidine.
Nyhan WL, Gangoiti JA
Neuropediatrics 2016 Dec;47(6):408-409. Epub 2016 Aug 30 doi: 10.1055/s-0036-1587594. PMID: 27574833
Enhanced uridine bioavailability following administration of a triacetyluridine-rich nutritional supplement.
Weinberg ME, Roman MC, Jacob P, Wen M, Cheung P, Walker UA, Mulligan K, Schambelan M
PLoS One 2011 Feb 17;6(2):e14709. doi: 10.1371/journal.pone.0014709. PMID: 21379380Free PMC Article
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.
Chen J, Bennett MJ
Methods Mol Biol 2010;603:445-51. doi: 10.1007/978-1-60761-459-3_43. PMID: 20077096
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y
Am J Hum Genet 1997 Mar;60(3):525-39. PMID: 9042911Free PMC Article

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