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.
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Acknowledgments
We thank Dr. Angela Giacco for nutritional counseling.
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Communicated by: Robert Steiner
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Synopsis
A successful pregnancy was achieved in a woman with MADD through a careful clinical monitoring associated with an adequate nutritional/medical management.
Authorship Contribution
Annalisa Creanza analysed the data and wrote the first draft, Mariella Cotugno cared for the patient and collected the clinical data, Giulia Frisso and Cristina Mazzaccara performed the genetic test and wrote the part of the manuscript dealing with molecular diagnosis, Giancarlo Parenti cared for the patient during childhood and Brunella Capaldo cared for the patient and revised the manuscript.
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Brunella Capaldo.
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Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti and Brunella Capaldo declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from patient for being included in the study. Additional informed consent was obtained from all patients for which identifying information is included in this article.
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This article does not contain any studies with human or animal subjects performed by the any of the authors.
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Creanza, A., Cotugno, M., Mazzaccara, C., Frisso, G., Parenti, G., Capaldo, B. (2017). Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 39. JIMD Reports, vol 39. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_38
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DOI: https://doi.org/10.1007/8904_2017_38
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