Common Disorders Related to Nucleotide Metabolism
Orotic Aciduria: Pathogenesis and Clinical Management
Orotic aciduria is a rare genetic disorder affecting nucleotide metabolism. It leads to excessive urinary excretion of orotic acid due to a deficiency in UMP synthase.
Orotic Aciduria: Pathogenesis and Clinical Management
Orotic aciduria is a rare autosomal recessive disorder that affects nucleotide metabolism. It is characterized by excessive excretion of orotic acid in urine due to a defect in the pyrimidine biosynthesis pathway.
Pathogenesis
The disorder is caused by a deficiency in the enzyme UMP synthase, which leads to an accumulation of orotic acid. This deficiency impairs the normal synthesis of uridine monophosphate (UMP), resulting in defective pyrimidine metabolism.
Clinical Manifestations
- Megaloblastic anemia unresponsive to vitamin B12 or folic acid
- Growth retardation
- Excessive urinary excretion of orotic acid
- Neurological deficits in severe cases
Diagnosis
Diagnosis is typically confirmed through biochemical assays measuring elevated orotic acid levels in urine and genetic testing for UMP synthase mutations.
Management
Treatment involves supplementation with uridine or cytidine, which bypasses the metabolic block and restores pyrimidine biosynthesis. Supportive care such as anemia management and growth monitoring is also essential.
Conclusion
Orotic aciduria is a manageable metabolic disorder with early diagnosis and appropriate intervention. Understanding its pathogenesis and clinical features allows for timely treatment and improved patient outcomes.
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