Orotic aciduria purines-pyrimidines

Orotic aciduria purines-pyrimidines is a rare metabolic disorder characterized by an excess of orotic acid in the urine. This condition is a subtype of the broader category of purine and pyrimidine disorders, which involve abnormalities in the body's processing of these two types of nucleotides.

Etiology

Orotic aciduria purines-pyrimidines is caused by a deficiency in the enzyme orotate phosphoribosyltransferase and/or orotidine 5'-phosphate decarboxylase. These enzymes are involved in the de novo synthesis of pyrimidines, which are essential components of DNA and RNA. The deficiency is typically due to mutations in the UMPS gene.

Symptoms

The symptoms of orotic aciduria purines-pyrimidines can vary widely, but often include failure to thrive, developmental delay, and megaloblastic anemia. Some patients may also exhibit physical abnormalities such as microcephaly (small head size) and dysmorphic features.

Diagnosis

Diagnosis of orotic aciduria purines-pyrimidines is typically made through urine tests that reveal elevated levels of orotic acid. Genetic testing can also be used to identify mutations in the UMPS gene.

Treatment

Treatment for orotic aciduria purines-pyrimidines typically involves dietary modifications to limit the intake of purines and pyrimidines. In some cases, uridine supplementation may be beneficial.

Prognosis

The prognosis for individuals with orotic aciduria purines-pyrimidines can vary widely depending on the severity of the condition and the individual's response to treatment. With appropriate management, many individuals can lead relatively normal lives.

See also

• Orotic acid
• Purine
• Pyrimidine
• Metabolic disorder
• UMPS

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