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Licensed Unlicensed Requires Authentication Published by De Gruyter December 5, 2019

Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)

Penelope D. Manta-Vogli, Kleopatra H. Schulpis, Yannis Dotsikas and Yannis L. Loukas


The establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps the affected females to reach the reproductive age under medical and dietetic support, as well as to give birth to normal infants. In this review, we aimed to focus on laboratory investigation tests, dietetic management and medical support for most known IEMD pregnant and lactating women, such as those suffering from aminoacidopathies, carbohydrate metabolic diseases and fatty acid (FAO) oxidation disorders.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: None declared.


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Received: 2019-01-23
Accepted: 2019-09-20
Published Online: 2019-12-05
Published in Print: 2020-01-28

©2020 Walter de Gruyter GmbH, Berlin/Boston