Experience with the treatment of argininosuccinic aciduria during pregnancy

L Reid1, E Perreault, G Lafrance

  • 1Service de génétique médicale, Centre hospitalier universitaire de Sherbrooke, 3001, 12th Avenue Nord, Sherbrooke, Québec, J1H 5N4, Canada.

We present the details of the management and the outcome of a pregnancy of a woman affected with argininosuccinic aciduria. Management with a closely monitored, protein-restricted diet, supplemented with L-arginine, resulted in the birth of a healthy infant boy and an uneventful perinatal course for the mother.

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