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Orotic aciduria without megaloblastic anemia(OAWA)

MedGen UID:
480252
•Concept ID:
C3278622
•
Disease or Syndrome
Synonym: OAWA
 
Monarch Initiative: MONDO:0800308
OMIM®: 258900

Recent clinical studies

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

Therapy

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
Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.
Yazaki M, Okajima K, Suchi M, Morishita H, Wada Y
Tohoku J Exp Med 1987 Nov;153(3):189-95. doi: 10.1620/tjem.153.189. PMID: 2829387
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
Haggard ME, Lockhart LH
Am J Dis Child 1967 Jun;113(6):733-40. doi: 10.1001/archpedi.1967.02090210147020. PMID: 6026580

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
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

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