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Uridine-cytidineuria(URCTU)

MedGen UID:
1681582
•Concept ID:
C4760647
•
Finding
Synonyms: URCTU; URIDINE-CYTIDINEURIA
 
Gene (location): SLC28A1 (15q25.3)
 
Monarch Initiative: MONDO:0032773
OMIM®: 618477

Definition

Uridine-cytidineuria (URCTU) is an inborn error of metabolism comprising increased excretion of the pyrimidine nucleosides. This condition has been identified incidentally and may be a benign metabolic phenotype (summary by Wevers et al., 2019). [from OMIM]

Clinical features

From HPO
Elevated urinary cytidine
MedGen UID:
1713661
•Concept ID:
C5397600
•
Finding
Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.
See: Feature record | Search on this feature
Elevated urinary uridine level
MedGen UID:
1712524
•Concept ID:
C5397601
•
Finding
Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29).
Pastor-Anglada M, Mata-Ventosa A, Pérez-Torras S
Int J Mol Sci 2022 Aug 7;23(15) doi: 10.3390/ijms23158770. PMID: 35955904Free PMC Article

Prognosis

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP
Biochim Biophys Acta Mol Basis Dis 2019 Jun 1;1865(6):1182-1191. Epub 2019 Jan 15 doi: 10.1016/j.bbadis.2019.01.013. PMID: 30658162

Clinical prediction guides

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP
Biochim Biophys Acta Mol Basis Dis 2019 Jun 1;1865(6):1182-1191. Epub 2019 Jan 15 doi: 10.1016/j.bbadis.2019.01.013. PMID: 30658162

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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