Conditions / Genetic
orotic aciduria
info · Genetic
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
Signs and symptoms
- Reduced orotidine 5-prime phosphate decarboxylase level
- Hematuria
- Anisocytosis
- Hypochromia
- Folate-unresponsive megaloblastic anemia
- Oroticaciduria
- Orotic acid crystalluria
- Pyrimidine-responsive megaloblastic anemia
- Poikilocytosis
- Global developmental delay