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Urea Cycle Disorder

Urea Cycle Disorder Causes

Lack of particular enzyme in the urea cycle Maybe genetic

Urea Cycle Disorder 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.

Urea Cycle Disorder Diagnosis

Genetic tests Liver biopsy CT scan MRI

Urea Cycle 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.

Urea Cycle Disorder 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

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