International Journal of Food and Nutritional Science
Essential Fatty Acid Deficiency in Very Long-Chain Acyl-CoA Dehydrogenase Deficient Patients
- ¹Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
- ²Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, The Netherlands.
Gepke Visser, Department of Gastroenterology and metabolic disease Wilhelmina Children\'s Hospital, KC 03.063.0, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, Tel: 0031887554003; Fax: 0031887555350; E-mail: email@example.com
Visser, G., et al. Essential Fatty Acid Deficiency In Very Long-Chain Acyl-Coa Dehydrogenase Deficient Patients (2014) J Food Nutr Sci 1(1): 27-30.
©2015 Visser, G. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.
KeywordsEssential fatty acid deficiency; Very long-chain acyl-CoA dehydrogenase deficiency; VLCADD; Mead acid; linoleic acid; long-chain triglyceride restriction.
Introduction: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), a long-chain fatty acid (LCFA) beta-oxidation disorder, may be treated with LCFA restriction. As Essential Fatty Acids (EFAs) are LCFAs, patients may be at risk for EFA deficiency.
Objectives: Investigate whether LCFA restrictions lead to EFA deficiency in VLCADD and which markers are indicative of EFA deficiency.
Methods: Thirty-nine LCFA profiles of 16 VLCADD patients were determined in erythrocytes and compared to 48 healthy controls. The predictive value of EFA deficiency markers was calculated from data of a historic cohort (n = 4523, 0-39yrs).
Results: Linoleic acid (LA), dihomo-γ-linolenic acid (DHLA) and eicosapentaenoic acid (EPA) were significantly decreased in VLCADD patients. Patients on docosahexaenoic acid (DHA) and arachidonic acid (AA) supplementation exhibited even lower LA. Mead acid, a presumed marker for EFA-deficiency, was not increased in patients. In the historic cohort, sensitivity of MA was low for LA deficiency (24% for levels < 2.5 percentile) and for DHA AA deficiency (12% for levels < 2.5 percentile).
Discussion: VLCADD patients on LCFA restriction are prone to develop LA deficiency. Furthermore, MA is a specific, but not a sensitive marker for LA or EFA deficiency, neither in VLCADD patients, nor in healthy controls, nor in a large patient cohort.