Polyunsaturated fatty acid status in treated isovaleric acidemia patients

Eur J Clin Nutr. 2016 Oct;70(10):1123-1126. doi: 10.1038/ejcn.2016.100. Epub 2016 Jun 22.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / blood*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Diet, Protein-Restricted*
  • Fatty Acids, Unsaturated / blood*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Isovaleryl-CoA Dehydrogenase / blood
  • Isovaleryl-CoA Dehydrogenase / deficiency*
  • Isovaleryl-CoA Dehydrogenase / genetics
  • Male
  • Nutritional Status
  • Young Adult


  • Fatty Acids, Unsaturated
  • Isovaleryl-CoA Dehydrogenase

Supplementary concepts

  • Acidemia, isovaleric