• Nutrition · Jan 2022

    Case Reports

    First reported case of pregnancy in a patient with ornithine aminotransferase deficiency.

    • Tomi Kanninen, Elizabeth Bryant, Celide Koerner, and Bernard Gonik.
    • Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, Michigan, USA.
    • Nutrition. 2022 Jan 1; 93: 111513.

    AbstractOrnithine aminotransferase deficiency is a rare autosomalrecessive human inborn error of the metabolism resulting in hyperornithinemia and progressive chorioretinal degeneration (gyrate atrophy) with blindness. There are few reports in the literature and none, to our knowledge, that address this condition during pregnancy. We report on a novel case of ornithine aminotransferase deficiency during pregnancy that was managed actively with arginine and protein restriction with serial amino acid and fetal growth monitoring, resulting in an uncomplicated term live birth.Copyright © 2021 Elsevier Inc. All rights reserved.

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