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Orotic aciduria
rareAn 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.
- Identifiers
- MONDO:0009797 OMIM:258900Orphanet:30
- Causal genes
- UMPS
- Part of
- Inborn disorder of pyrimidine metabolismVitamin B12- and folate-independent constitutional megaloblastic anemia
- Also known as
- Hereditary Orotic Aciduria · orotate phosphoribosyltransferase and OMP decarboxylase deficiency · orotic aciduria II (formerly) · orotic aciduria type 1 · orotic aciduria without megaloblastic Anaemia
Subtypes
| Disease | Subtypes |
|---|---|
| Orotic aciduria without megaloblastic anemia |
Rare disease
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