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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