Polyunsaturated fatty acid status in treated isovaleric acidemia patients

ABSTRACT BACKGROUND/OBJECTIVES: Nutritional deficiencies are frequently observed when treating patients with inborn errors of metabolism due to an unbalanced diet. Thus far, patients with

isovaleric acidemia (IVA) who adhere to a restricted protein diet have not been investigated in this respect. We hypothesize that these patients may have a polyunsaturated fatty acid (PUFA)

deficiency, leading to potential clinical complications. SUBJECTS/METHODS: We examined the nutritional status by reporting on potential deficiencies in PUFAs in treated IVA patients. A

general clinical chemistry work-up as well as gas chromatography flame ionization detector analysis was performed to determine PUFAs in the plasma of 10 IVA patients. RESULTS: The general

clinical chemistry tests did not indicate severe hematological abnormalities or nutritional insufficiencies. We identified a significant reduction in plasma PUFA levels, especially in

omega-3 (all acids, _P_<0.001) and omega-6 (in particular 20:3n-6 _P_<0.0001 and 20:4n-6 _P_=0.0005) fatty acids. In addition, an elevation in omega-9 fatty acids, with the exception

of 20:3n-9 and C22:1n-9, was not suggestive of complete essential fatty acid deficiency but rather indicative of isolated and/or combined omega-3 and omega-6 fatty acid depletion.

CONCLUSIONS: This study emphasizes the potential nutritional insufficiencies that may occur because of therapeutic intervention in IVA. Access through your institution Buy or subscribe This

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a Carolina MacGillavry PhD Fellowship awarded by ‘Koninklijke Nederlandse Akademie van Wetenschappen’ to assist in research in Isovaleric acidemia. We thank the staff at the Laboratory

Genetic Metabolic Diseases (GMDs) at the Academic Medical Center, University of Amsterdam, for their expert advice and assistance. The study was also made possible with the logistical,

scientific and statistical contribution of the staff of Human Metabolomics and Wilma Breytenbach, the statistical consultant at the North-West University in Potchefstroom, South Africa. We

are grateful to the patients and their families for participation in this study. Data presented at ICIEM 2013 and Submitted for publication. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS *

Departments of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands M Dercksen, W Kulik, R J

A Wanders & M Duran * Human Metabolomics, North-West University, Potchefstroom, South Africa M Dercksen, L J Mienie & C J Reinecke Authors * M Dercksen View author publications You

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Correspondence to M Dercksen. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no conflict of interest. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE

THIS ARTICLE Dercksen, M., Kulik, W., Mienie, L. _et al._ Polyunsaturated fatty acid status in treated isovaleric acidemia patients. _Eur J Clin Nutr_ 70, 1123–1126 (2016).

https://doi.org/10.1038/ejcn.2016.100 Download citation * Received: 10 September 2015 * Revised: 15 May 2016 * Accepted: 17 May 2016 * Published: 22 June 2016 * Issue Date: October 2016 *

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