Amino Acid Changes during Successful Pregnancy in a Case of Lysinuric Protein Insufficiency

Lysinuric protein insufficiency (LPI) is a rare autosomal recessive disorder, and pregnancy in patients with this condition has been considered risky. We, however, observed a relatively favorable course of pregnancy in a woman with LPI, and even amelioration of symptoms during pregnancy. We believe that this unique observation is not only important for patients with LPI who are facing a choice of child-bearing, but is also of interest to obstetricians and researchers of amino acid metabolism.