congenital hyperammonemia

congenital hyperammonemia

An accumulation of an excess of ammonia in the body due to a congenital deficiency of enzymes, either carbamyl phosphate synthetase or ornithine transcarbamylase, essential to the metabolism of ammonia. Clinical signs of ammonia toxicity are present, including vomiting, lethargy, coma, and, eventually, death.
See also: hyperammonemia
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