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Urea Cycle Disorder
Urea Cycle Disorder
by Alike Medical Team ∙ Updated on June 13, 2023
General
In urea cycle disorder, the process that moves urea through your body isn't working properly. It’s usually the result of a missing protein or enzyme. Known as an inborn error in metabolism, urea cycle disorder causes your blood to accumulate too much ammonia, which is toxic. Symptoms of this condition target your brain and organ function.
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Signs & symptoms
There are usually signs of urea cycle disorder soon after your baby is born, but it can happen at any age. Signs of urea cycle disorder include: Lethargy. Nausea or vomiting. Can’t eat or feed. Breathing too fast or too slow. Confusion.
Diagnosis
After reviewing your symptoms and taking a complete medical history, your doctor will diagnose urea cycle disorder. They might order a blood or urine test to confirm a diagnosis.
Treatment
Several treatments can be used to treat urea cycle disorder, including: Eating a diet low in protein. Dialysis. Remove ammonia from your blood by taking medicine containing sodium phenylacetate and sodium benzoate. You can encourage your body to complete the urea cycle by taking amino acid supplements. Severe cases of hyperammonemia could lead to a liver transplant.
Note
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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