5C55.1/E79 Disorders of pyrimidine metabolism



Disorders of pyrimidine metabolism arise when there is a deficiency in the enzymes involved in the production of pyrimidines, which are organic compounds found in DNA and RNA. These disorders may be inherited or acquired.


Disorders of pyrimidine metabolism can be diagnosed through genetic testing, urine tests, and biochemical tests. Blood tests can be used to measure the levels of enzymes involved in pyrimidine metabolism.

Differential diagnosis

Other conditions that can cause similar symptoms to those seen in pyrimidine metabolism disorders include liver diseases, kidney diseases, and metabolic disorders.


Treatment of pyrimidine metabolism disorders depends on the specific disorder and may include dietary changes, medication, and enzyme replacement therapy.


The prognosis for patients with disorders of pyrimidine metabolism varies depending on the specific disorder and the severity of the symptoms. In some cases, the disorder can be managed with lifestyle changes and medications, while in other cases, the disorder may be life-threatening.

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