Orotic Acid Diseases
A buildup of orotic acid can lead to orotic aciduria. It may be a symptom of an increased ammonia load due to a metabolic disorder, such as a urea cycle disorder.
In ornithine transcarbamoylase deficiency, a disorder of the urea cycle, excess carbamoyl phosphate is converted into orotic acid. This typically leads to increased urinary orotic acid excretion, because the orotic acid is not being properly utilized and must be eliminated.
Orotic acid can be mutagenic (causes mutations) in mammalian somatic cells. It is also mutagenic for bacteria and or yeast.
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