Urea Cycle Disorder

Below you will find more information about Urea Cycle Disorder from Medigest. If you believe that you are suffering from any of the symptoms of Urea Cycle Disorder it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Urea Cycle Disorder and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Urea Cycle Disorder comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

It is a genetic disorder where in it is caused by a lack of one of the enzymes in the urea cycle that is responsible for getting rid of ammonia from the blood stream.

Diagnosis

Genetic tests Liver biopsy CT scan MRI

Treatment

Balance dietary protein intake Supplementation of special amino acid formulas especially developed for urea cycle disorders Blood tests to monitor the disorder and optimize treatment Liver transplants for severe cases Hospitalization to control the disorder

Symptoms and Signs

Neonatal period: Baby may be easily irritated accompanied by vomiting and increased lethargy followed by seizures, hypotonia, respiratory diseases and coma. These usually happen during the first 24 hours. Childhood: Early symptoms, hyperactive behaviour and refusal to eat meat or foods that is high in protein. Later symptoms include recurrent episodes of vomiting, lethargy and delirium and in worst cases death and coma. Adulthood: stroke-like symptoms, lethargy episodes and delirium.

Causes

Lack of particular enzyme in the urea cycle Maybe genetic

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