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
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