Pyrimidinemia familial

Pyrimidinemia familial is a rare metabolic disorder characterized by an excess of pyrimidines in the blood. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder.

Etiology

Familial pyrimidinemia is caused by a deficiency in the enzyme dihydropyrimidine dehydrogenase (DPD), which is responsible for the breakdown of pyrimidines. This deficiency is due to mutations in the DPYD gene, which provides instructions for making DPD.

Symptoms

The symptoms of familial pyrimidinemia can vary widely among affected individuals. They may include neurological symptoms such as seizures, intellectual disability, and developmental delay. Other symptoms may include gastrointestinal problems, anemia, and growth retardation.

Diagnosis

Diagnosis of familial pyrimidinemia is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include biochemical tests to measure the levels of pyrimidines in the blood and genetic testing to identify mutations in the DPYD gene.

Treatment

There is currently no cure for familial pyrimidinemia. Treatment is symptomatic and supportive, and may include medications to control seizures, special education for those with intellectual disability, and nutritional support for those with gastrointestinal problems.

Prognosis

The prognosis for individuals with familial pyrimidinemia varies depending on the severity of symptoms. With appropriate management, many individuals with this condition can lead a normal life.

See also

• Metabolic disorder
• Autosomal recessive
• Dihydropyrimidine dehydrogenase
• DPYD gene
• Seizures
• Intellectual disability
• Developmental delay
• Gastrointestinal
• Anemia
• Growth retardation
• Biochemical
• Genetic testing

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