Polyunsaturated fatty acid status in treated isovaleric acidemia patients
Date
2016Author
Dercksen, M.
Mienie, L.J.
Reinecke, C.J.
Kulik, W.
Wanders, R.J.A.
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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, Po0.001) and omega-6 (in particular
20:3n-6 Po0.0001 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
URI
http://hdl.handle.net/10394/18884https://doi.org/10.1038/ejcn.2016.100
https://www.nature.com/ejcn/journal/v70/n10/full/ejcn2016100a.html