Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency

  • Annalisa Creanza
  • Mariella Cotugno
  • Cristina Mazzaccara
  • Giulia Frisso
  • Giancarlo Parenti
  • Brunella Capaldo
Research Report
Part of the JIMD Reports book series (JIMD, volume 39)

Abstract

Multiple acyl-CoA dehydrogenation deficiency (MADD) is an inborn disorder of fatty acid oxidation due to a defect in electron transfer to the respiratory chain. We describe the medical/nutritional management of a successful pregnancy in a 19-year-old woman with a known diagnosis of MADD. A high-carbohydrate, low-fat, six-meal diet supplemented with protein was prescribed to meet the nutritional needs during pregnancy. l-Carnitine supplementation was also progressively increased over the weeks. Serum acyl-carnitine profile revealed raised levels of chain-length C6-C14, which remained substantially unchanged during pregnancy. Serum amino acid profile was in the normal range indicating an adequate nutritional support. Pregnancy progressed uneventful and the patient gave birth to a healthy boy without any complication.

A careful clinical monitoring associated with an adequate medical/nutritional management may improve pregnancy outcome in women with MADD.

Keywords

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) Nutritional management Pregnancy 

Notes

Acknowledgments

We thank Dr. Angela Giacco for nutritional counseling.

References

  1. Elango R, Ball RO (2016) Protein and amino acid requirements during pregnancy. Adv Nutr 7:839S–844SCrossRefPubMedPubMedCentralGoogle Scholar
  2. Goodman SI, Binard RJ, Woontner MR, Frerman FE (2002) Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxido reductase (ETF:QO) gene. Mol Genet Metab 77:86–90CrossRefPubMedGoogle Scholar
  3. Mongini T, Doriguzi C, Palmucci L et al (1992) Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. Eur Neurol 32:170–176CrossRefPubMedGoogle Scholar
  4. Murphy E (2015) Pregnancy in women with inherited metabolic disease. Obstet Med 8:61–67CrossRefPubMedPubMedCentralGoogle Scholar
  5. Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22:12–23CrossRefPubMedGoogle Scholar
  6. Olsen RK, Andresen BS, Christensen E et al (2005) DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenat Diagn 25:60–64CrossRefPubMedGoogle Scholar
  7. Olsen RK, Olpin SE, Andresen BS et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054CrossRefPubMedGoogle Scholar
  8. Rhead WJ, Wolff JA, Lipson M et al (1987) Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 21:371–376CrossRefPubMedGoogle Scholar
  9. Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C (2006) A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. Mol Genet Metab 88:153–158CrossRefPubMedGoogle Scholar
  10. Scolamiero E, Cozzolino C, Albano L et al (2015) Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol BioSyst 11:1525–1535CrossRefPubMedGoogle Scholar
  11. Trakadis Y, Kadlubowska D, Barnes R et al (2012) Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD). Mol Genet Metab 106:491–494CrossRefPubMedGoogle Scholar
  12. Turnbull DM, Barlett K, Eyre JA et al (1988) Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy. Dev Med Child Neurol 30:667–672CrossRefPubMedGoogle Scholar
  13. Williams SF, Alvarez JR, Pedro HF et al (2008) Glutaric aciduria type II and narcolepsy in pregnancy. Obstet Gynecol 111:522–524CrossRefPubMedGoogle Scholar
  14. Yotsumoto Y, Hasegawa Y, Fukuda S et al (2008) Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 94:61–67CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Annalisa Creanza
    • 1
  • Mariella Cotugno
    • 1
  • Cristina Mazzaccara
    • 2
  • Giulia Frisso
    • 2
  • Giancarlo Parenti
    • 3
  • Brunella Capaldo
    • 1
  1. 1.Department of Clinical Medicine and SurgeryUniversity of Naples Federico IINaplesItaly
  2. 2.Department of Molecular Medicine and Biotechnologies, CEINGE-Biotecnologie AvanzateUniversity of Naples Federico IINaplesItaly
  3. 3.Department of Translational Medicine (G.P.)University of Naples Federico IINaplesItaly

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