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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.

6/7/20253 min read43 views
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Orotic Aciduria: Causes, Symptoms, and Treatment

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.

Tags

#Orotic Aciduria#Nucleotide Metabolism#UMP Synthase Deficiency#Megaloblastic Anemia

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