Urea Cycle Disorder
What is it?
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.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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