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Orotic Aciduria Type 1

What is orotic aciduria type 1?

Orotic aciduria type 1, also known as hereditary orotic aciduria, is a rare inherited condition where the body cannot produce enough of a specific enzyme known as UMP synthetase.  This enzyme is very important because it produces substances that make up an individual’s RNA and DNA, making it necessary for normal body development and function. The deficiency in this enzyme can cause a blockage of the urea cycle.

What are the symptoms of orotic aciduria type 1?

The symptoms of orotic aciduria type 1 include:

  • Excessive excretion of orotic acid in the urine
  • Immune system deficiencies
  • A specific type of anemia known as megaloblastic anemia
  • Increased distance between eyes
  • Birth defect of the heart known as patent ductus arteriosus
  • Enlarged spleen
  • Frequent respiratory infections
  • Abnormal hip bones
  • Abnormal toenails
  • Upper urinary tract abnormalities
  • Low set ears

Are there treatment options for orotic aciduria type 1?

Treatment of orotic aciduria type 1 involves the administration of supplements of the compound known as Uridine.  Fortunately, this treatment has a good prognosis, but individuals with immune deficiency and congenital deformities may have lowered success rates with treatment.

Where can I find more information about orotic aciduria type 1?

Orotic Aciduria Type 1 Articles