Lysinuric protein intolerance in pregnancy: case report with successful outcome

We present a 28-year-old pregnant woman who exhibited intolerance to lysinuric protein. However, she gave birth to a normal child without serious maternal complications. Since four of seven similar patients reported previously developed serious complications such as hemorrhage and eclampsia, patients with lysinuric protein intolerance are considered to be at high risk during pregnancy. A successful outcome can be achieved, provided that the anemia, thrombocytopenia, toxemia and hyperammonemia are well controlled.