Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus

Abstract

ORNITHINE carbamoyltransferase deficiency is an X-linked disorder of urea synthesis. Its clinical manifestations — lethargy, vomiting, coma, and cerebral edema — are related to hyperammonemia and hyperglutaminemia. Other laboratory findings include low plasma levels of arginine, citrulline, and urea. Orotic aciduria also occurs commonly during hyperammonemic episodes.1 The phenotypic consequences of mutations at the ornithine carbamoyltransferase locus in children are well known; they are less well described in adults. In newborn boys, ornithine carbamoyltransferase deficiency is manifested by hyperammonemic coma that often leads to death or, in those who recover from coma, mental retardation and cerebral palsy.1 Older boys may . . .