Skip to content
MS
Sign in
UMPS AR unreviewed

Hereditary orotic aciduria

Pyrimidine synthesis UMP synthase (OPRT + OMP decarboxylase)

Enzyme or protein defect

UMP synthase (OPRT + OMP decarboxylase)

Accumulates or becomes deficient

Orotic acid

Key features

Megaloblastic anaemia NOT responsive to B12 or folate, failure to thrive; NO hyperammonaemia (unlike OTC deficiency)

Management

Oral uridine

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

Refresh

Europe PMC · from cache · sorted by publication date

  1. 1
    Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.

    Assadourian AA, Martinez-Agosto JA. · 2025-11-22

    cited 2× open access unreviewed
  2. 2
    Toward an Extensible Regulatory Framework for N-of-1 to N-of-Few Personalized RNA Therapy Design.

    Bou-Jaoudeh M, Piaton-Breda G, Pereme F, Gilbert S. · 2025-02-27

    cited 6× open access unreviewed
  3. 3
    Landscape of targets within nucleoside metabolism for the modification of immune responses.

    Dunderdale EM, Abt ER. · 2025-05-30

    open access unreviewed
  4. 4
    An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

    Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR, Knupp KG, Michel CR, Reisdo… · 2024-10-15

    cited 2× unreviewed
  5. 5
    Premarket Pivotal Trial End Points and Postmarketing Requirements for FDA Breakthrough Therapies.

    Mooghali M, Wallach JD, Ross JS, Ramachandran R. · 2024-08-01

    cited 6× open access unreviewed
  6. 6
    Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.

    Duan L, Ye L, Yin R, Sun Y, Yu W, Zhang Y, Zhong H, Bao X, Tian X. · 2024-03-07

    cited 5× open access unreviewed
  7. 7
    Identification and validation of diagnostic biomarkers for intrahepatic cholestasis of pregnancy based on untargeted and targeted metabolomics analyses of urine metabolite profiles.

    Liu W, Chen L, Miao K, You Y, Li J, Lu J, Zhang Y. · 2023-11-30

    cited 7× open access unreviewed
  8. 8
    Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.

    Rossi A, Basilicata S, Borrelli M, Ferreira CR, Blau N, Santamaria F. · 2023-07-24

    cited 4× open access unreviewed
  9. 9
    The Strange Case of Orotic Acid: The Different Expression of Pyrimidines Biosynthesis in Healthy Males and Females.

    Chiara F, Allegra S, Mula J, Puccinelli MP, Abbadessa G, Mengozzi G, De Francia S. · 2023-09-28

    cited 3× open access unreviewed
  10. 10
    Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.

    de Boer L, Cambi A, Verhagen LM, de Haas P, van Karnebeek CDM, Blau N, Ferreira CR. · 2023-04-17

    cited 10× unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.