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(E72.4) Disorders of ornithine metabolism
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49 396 in individuals diagnosis disorders of ornithine metabolism confirmed
7 156 deaths with diagnosis disorders of ornithine metabolism
15% mortality rate associated with the disease disorders of ornithine metabolism
Diagnosis disorders of ornithine metabolism is diagnosed Women are 6.86% more likely than Men
23 003
Men receive the diagnosis disorders of ornithine metabolism
3 532 (15.4 %)Died from this diagnosis.
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26 393
Women receive the diagnosis disorders of ornithine metabolism
3 624 (13.7 %)Died from this diagnosis.
Risk Group for the Disease disorders of ornithine metabolism - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-14, 20-24, 30-79
Less common in men the disease occurs at Age 15-19, 25-29, 80-95+Less common in women the disease occurs at Age 80-95+
In Women diagnosis is most often set at age 0-79
Disease Features disorders of ornithine metabolism
Absence or low individual and public risk
Disorders of ornithine metabolism - what does this mean
Disorders of ornithine metabolism occur when the body is unable to properly break down the amino acid ornithine. this can lead to an accumulation of toxic substances in the body, resulting in a range of symptoms, including developmental delay, intellectual disability, seizures, and behavioral problems.
What happens during the disease - disorders of ornithine metabolism
Disorders of ornithine metabolism result from a deficiency of the enzyme ornithine transcarbamylase, which is responsible for the conversion of ornithine to citrulline. this deficiency can lead to an accumulation of ornithine and other metabolites, resulting in a disruption of the urea cycle and leading to an increase in ammonia levels in the blood. this can lead to a variety of symptoms, including mental retardation, seizures, and coma.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Blood tests to measure ornithine levels
- Urine tests to measure ornithine levels
- Genetic testing
- Imaging tests such as an MRI to look for physical changes
- Biopsies to assess tissue samples
- Liver function tests
- Amino acid tests
- Enzyme tests
- Metabolic tests
Treatment and Medical Assistance
Main Goal: To reduce the symptoms and improve the patient's quality of life.
- Prescribing medications to reduce symptoms
- Providing dietary counseling to ensure proper nutrition
- Monitoring patient's electrolyte levels
- Administering intravenous fluids to replace lost electrolytes
- Prescribing supplements to replace lost amino acids
- Recommending physical therapy to improve muscle strength
- Encouraging patient to participate in regular exercise
- Providing education about the disorder and treatment options
- Referring patient to a genetic counselor for further testing
16 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of ornithine metabolism - Prevention
Disorders of ornithine metabolism can be prevented by maintaining a healthy, balanced diet that is low in sugar and processed foods, and including plenty of fresh fruits and vegetables. additionally, regular exercise and maintaining a healthy weight can help reduce the risk of developing these disorders.