Hereditary orotic aciduria

Hereditary orotic aciduria is a rare autosomal recessive metabolic disorder characterized by anemia, developmental delay, and failure to thrive. It is caused by a deficiency of the enzyme uridine monophosphate synthetase (UMPS), which results in an accumulation of orotic acid in the body. This condition is also known as orotic aciduria type I.

Symptoms

The symptoms of hereditary orotic aciduria can vary greatly from person to person. However, common symptoms include:

• Anemia
• Developmental delay
• Failure to thrive
• Growth retardation
• Megaloblastic anemia
• Orotic aciduria

Causes

Hereditary orotic aciduria is caused by mutations in the UMPS gene. This gene provides instructions for making an enzyme called uridine monophosphate synthetase, which is involved in the production of pyrimidines, a type of molecule that is a building block of DNA and RNA. Mutations in the UMPS gene disrupt the normal function of this enzyme, leading to an accumulation of orotic acid in the body.

Diagnosis

Diagnosis of hereditary orotic aciduria is typically made through a combination of clinical examination and laboratory testing. Laboratory tests may include:

• Blood tests
• Urine tests
• Genetic testing for mutations in the UMPS gene

Treatment

Treatment for hereditary orotic aciduria is primarily supportive and may include:

• Dietary modifications
• Supplementation with uridine
• Regular monitoring and management of symptoms

Prognosis

The prognosis for individuals with hereditary orotic aciduria varies depending on the severity of the condition and the individual's response to treatment. With appropriate management, many individuals with this condition can lead normal, healthy lives.

See also

• Metabolic disorders
• Genetic disorders
• UMPS gene

References

Hereditary orotic aciduria Resources
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