PEDIATRICS Vol. 48 No. 4 October 1971, pp. 595-600
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HYPERAMMONEMIA DUE TO A MUTANT ENZYME OF ORNITHINE TRANSCARBAMYLASE

Ichiro Matsuda M.D.1, Shinichiro Arashima M.D.1, Haruo Nambu M.D.1, Yasuo Takekoshi M.D.1, and Michiya Anakura M.D.1

1 Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

In a case of congenital hyperammonemia described in an 8frac12-month-old girl, elevated blood ammonia was shown to result from a mutant enzyme of ornithine transcarbamylase. An in vitro study indicated a decrease in affinity of the enzyme for carbamyl phosphate but not for ornithine.

Submitted on August 24, 1970
Accepted on March 13, 1971