Startseite Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
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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 EMAIL logo und Yannis L. Loukas EMAIL logo
Veröffentlicht/Copyright: 5. Dezember 2019
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 33 Heft 1

Abstract

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.

Keywords: galactosemia; IEMD mothers; lactation; phenylketonuria; pregnancy

  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

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Inborn errors of metabolism
  4. Reviews
  5. Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
  6. The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
  7. Original Articles
  8. Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
  9. Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
  10. What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
  11. Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
  12. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
  13. Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
  14. The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
  15. Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
  16. Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
  17. The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
  18. BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
  19. The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
  20. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
  21. Dietary practices in methylmalonic acidaemia: a European survey
  22. Case Reports
  23. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
  24. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
  25. Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
  26. Acknowledgment
https://doi.org/10.1515/jpem-2019-0048
Schlagwörter für diesen Artikel
galactosemia; IEMD mothers; lactation; phenylketonuria; pregnancy

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Inborn errors of metabolism
  4. Reviews
  5. Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
  6. The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
  7. Original Articles
  8. Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
  9. Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
  10. What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
  11. Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
  12. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
  13. Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
  14. The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
  15. Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
  16. Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
  17. The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
  18. BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
  19. The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
  20. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
  21. Dietary practices in methylmalonic acidaemia: a European survey
  22. Case Reports
  23. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
  24. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
  25. Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
  26. Acknowledgment
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