Essential Biochemistry - Nucleic Acid Metabolism (Section 3 - No. 41)
Which of the following is true about orotic aciduria?
Deficiency of an enzyme involved in pyrimidine biosynthesis.
Results in increased excretion of orotic acid.
Can cause anemia.
Often leads to increased levels of serum uric acid.
Explanation
Orotic aciduria is characterized by pyrimidine synthesis defects. Patients have an elevated level of orotic acid. It may cause anemia.
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