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Citrullinemia is an urea cycle enzymopathy, which is characterized by hyperammonemia, high
citrulline levle in serum, CSF, urine and decreased activity of argininosuccinic acid synthetase in liver
biopsy. The clinical symptoms are vomiting, lethergy, seizures, coma and ultimately in death if the
hyperammonemia is noit controlled. We experienced a 46-day-old male infant with vomiting, seizure
and coma, who is diagnosed as citrullinemia by markedly... |
