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(E72.2) Disorders of urea cycle metabolism
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49 396 in individuals diagnosis disorders of urea cycle metabolism confirmed
7 156 deaths with diagnosis disorders of urea cycle metabolism
15% mortality rate associated with the disease disorders of urea cycle metabolism
Diagnosis disorders of urea cycle metabolism is diagnosed Women are 6.86% more likely than Men
23 003
Men receive the diagnosis disorders of urea cycle metabolism
3 532 (15.4 %)Died from this diagnosis.
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26 393
Women receive the diagnosis disorders of urea cycle metabolism
3 624 (13.7 %)Died from this diagnosis.
Risk Group for the Disease disorders of urea cycle 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 urea cycle metabolism
Absence or low individual and public risk
Disorders of urea cycle metabolism - what does this mean
Disorders of urea cycle metabolism occur when the body is unable to break down proteins into amino acids, resulting in an accumulation of nitrogen-containing compounds such as ammonia, which can be toxic and cause neurological symptoms. these disorders can be caused by genetic mutations, which affect the enzymes involved in the cycle, or by a lack of certain vitamins or minerals.
What happens during the disease - disorders of urea cycle metabolism
Disorders of urea cycle metabolism occur when the body is unable to synthesize or break down the nitrogen-containing compound urea, leading to the buildup of toxins in the bloodstream. this can be caused by a genetic defect, a deficiency in one of the enzymes involved in the cycle, or a dietary deficiency in one of the amino acids needed for urea production. as a result, the body is unable to effectively remove ammonia and other nitrogen-containing compounds, leading to the accumulation of these toxins in the body and the development of symptoms.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Blood tests to measure levels of ammonia, amino acids, and other metabolites
- Urine tests to measure levels of ammonia, amino acids, and other metabolites
- Genetic testing to identify mutations in genes related to urea cycle metabolism
- Liver biopsy to assess the degree of liver damage
- Imaging tests such as MRI or CT scans to assess the size and shape of the liver
- Electrolyte tests to measure levels of electrolytes in the blood
- Kidney function tests to measure levels of creatinine and other metabolites
- Protein tests to measure levels of albumin and other proteins
Treatment and Medical Assistance
Main goal of the treatment: To restore the balance of nitrogen metabolism in the body.
- Restrict dietary protein intake
- Administer nitrogen scavengers such as L-Carnitine and L-Arginine
- Administer ammonium chloride or sodium benzoate to reduce ammonia levels
- Administer arginine-hydroxamate to reduce levels of ornithine
- Administer citrulline or ornithine to increase levels of arginine
- Administer sodium phenylbutyrate to reduce levels of ammonia
- Administer B-complex vitamins to support urea cycle enzyme activity
- Administer sodium phenylacetate to reduce levels of ammonia
- Administer N-acetylcysteine to reduce levels of ammonia
- Administer zinc to support urea cycle enzyme activity
16 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of urea cycle metabolism - Prevention
The best way to prevent disorders of urea cycle metabolism is to maintain proper nutrition, exercise regularly, and get regular check-ups with a healthcare provider. additionally, it is important to avoid known risk factors, such as alcohol and certain medications, as well as to manage any existing medical conditions that may increase the risk of developing a urea cycle disorder.