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(E79) Disorders of purine and pyrimidine metabolism
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34 362 in individuals diagnosis disorders of purine and pyrimidine metabolism confirmed
4 681 deaths with diagnosis disorders of purine and pyrimidine metabolism
14% mortality rate associated with the disease disorders of purine and pyrimidine metabolism
Diagnosis disorders of purine and pyrimidine metabolism is diagnosed Men are 13.21% more likely than Women
19 451
Men receive the diagnosis disorders of purine and pyrimidine metabolism
2 192 (11.3 %)Died from this diagnosis.
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14 911
Women receive the diagnosis disorders of purine and pyrimidine metabolism
2 489 (16.7 %)Died from this diagnosis.
Risk Group for the Disease disorders of purine and pyrimidine metabolism - Men and Women aged 5-9
In Men diagnosis is most often set at age 0-29, 35-89
Less common in men the disease occurs at Age 30-34, 90-95+Less common in women the disease occurs at Age 0-1, 20-34, 45-49, 90-94
In Women diagnosis is most often set at age 0-19, 35-44, 50-89, 95+
Disease Features disorders of purine and pyrimidine metabolism
Absence or low individual and public risk
Disorders of purine and pyrimidine metabolism - what does this mean
Disorders of purine and pyrimidine metabolism are genetic disorders caused by a deficiency in certain enzymes that are responsible for the breakdown of purines and pyrimidines, which are the building blocks of dna and rna. this can lead to a build-up of these compounds in the body, resulting in a variety of symptoms.
What happens during the disease - disorders of purine and pyrimidine metabolism
Disorders of purine and pyrimidine metabolism are caused by genetic mutations that affect the enzymes responsible for the synthesis and breakdown of purines and pyrimidines. these mutations interfere with the normal metabolic pathways, resulting in an accumulation of the metabolites and an inability to synthesize new ones. this can lead to a variety of clinical symptoms, including neurological, renal, and hematological disorders.
Clinical Pattern
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How does a doctor diagnose
- Complete medical history and physical examination
- Complete blood count
- Urinalysis
- Liver function tests
- Lactate dehydrogenase (LDH) levels
- Serum uric acid levels
- Urine purine and pyrimidine levels
- Urine amino acid levels
- Urine organic acid levels
- Genetic testing for enzyme deficiencies
- Imaging studies (e.g., MRI, CT scan)
- Muscle biopsy
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms and improve the quality of life of the patient.
- Treat underlying causes, such as infections or other medical conditions.
- Prescribe medications to restore normal levels of purine and pyrimidine metabolites.
- Provide dietary advice to reduce the intake of purine-rich foods.
- Encourage regular exercise to reduce the risk of complications.
- Monitor the patient’s progress with regular blood tests.
- Provide genetic counseling and education about the disorder.
- Refer the patient to a specialist for further evaluation and treatment.
12 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of purine and pyrimidine metabolism - Prevention
The best way to prevent disorders of purine and pyrimidine metabolism is to maintain a healthy lifestyle, including eating a balanced diet and exercising regularly. additionally, it is important to avoid activities that can put undue stress on the body, such as smoking, drinking alcohol, and using drugs. regular medical check-ups are also recommended to monitor any changes in the body.