A search for the primary abnormality in adult-onset type II citrullinemia.

  title={A search for the primary abnormality in adult-onset type II citrullinemia.},
  author={Ken Kobayashi and Nazma Shaheen and Ryukichi Kumashiro and Kyuichi Tanikawa and William E O'brien and Arthur L Beaudet and Takeyori Saheki},
  journal={American journal of human genetics},
  volume={53 5},
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia in human beings. Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS deficiency is found specifically in the liver. Previous studies have shown that the decrease of hepatic ASS activity is caused by a decrease in enzyme protein with normal kinetic properties and that there were no apparent abnormalities in the amount, translational activity, and gross structure of hepatic ASS mRNA… CONTINUE READING
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