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(E79.9) Disorder of purine and pyrimidine metabolism, unspecified
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34 362 in individuals diagnosis disorder of purine and pyrimidine metabolism, unspecified confirmed
4 681 deaths with diagnosis disorder of purine and pyrimidine metabolism, unspecified
14% mortality rate associated with the disease disorder of purine and pyrimidine metabolism, unspecified
Diagnosis disorder of purine and pyrimidine metabolism, unspecified is diagnosed Men are 13.21% more likely than Women
19 451
Men receive the diagnosis disorder of purine and pyrimidine metabolism, unspecified
2 192 (11.3 %)Died from this diagnosis.
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14 911
Women receive the diagnosis disorder of purine and pyrimidine metabolism, unspecified
2 489 (16.7 %)Died from this diagnosis.
Risk Group for the Disease disorder of purine and pyrimidine metabolism, unspecified - 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 disorder of purine and pyrimidine metabolism, unspecified
Absence or low individual and public risk
Disorder of purine and pyrimidine metabolism, unspecified - what does this mean
Disorder of purine and pyrimidine metabolism, unspecified is a condition caused by the body's inability to properly break down purine and pyrimidine molecules, which are essential for the production of dna and rna. this can lead to a build-up of these molecules in the body, resulting in an array of symptoms, such as fatigue, weight loss, and anemia.
What happens during the disease - disorder of purine and pyrimidine metabolism, unspecified
Disorder of purine and pyrimidine metabolism, unspecified is a broad term used to describe a variety of metabolic disorders that involve the inability of the body to properly metabolize purines and pyrimidines. these disorders are caused by genetic mutations that lead to deficiencies in enzymes needed to break down purines and pyrimidines, resulting in the accumulation of toxic metabolites and an imbalance in the body's nucleotide pool. this can lead to a variety of symptoms, including anemia, neurologic impairment, and growth failure.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete blood count (CBC) and peripheral blood smear
- Uric acid level
- Urine analysis
- Liver function tests
- Kidney function tests
- Amino acid levels
- Thyroid function tests
- Genetic testing
- CT scan or MRI of the brain
- Electroencephalogram (EEG)
- Electromyography (EMG)
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms and improve the overall health of the patient.
- Identify and address any underlying causes of the disorder
- Prescribe medications to reduce symptoms
- Educate the patient and their family about the disorder
- Provide dietary advice to reduce the symptoms
- Suggest lifestyle modifications to improve overall health
- Refer the patient to a specialist if necessary
- Encourage regular exercise and relaxation techniques
- Monitor the patient's progress and adjust treatment accordingly
12 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorder of purine and pyrimidine metabolism, unspecified - Prevention
In order to prevent disorder of purine and pyrimidine metabolism, unspecified, it is important to maintain a healthy diet, exercise regularly, and get adequate rest. additionally, it is important to avoid alcohol and smoking, as these can increase the risk of developing this disorder.