title: Polyunsaturated fatty acid status in treated isovaleric acidemia patients.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  This study emphasizes the potential nutritional insufficiencies that may occur because of therapeutic intervention in IVA.
authors.affiliation: Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.|Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: M
authors.initials: M
authors.lastname: Dercksen
authors.affiliation: Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Kulik
authors.affiliation: Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: L J
authors.initials: LJ
authors.lastname: Mienie
authors.affiliation: Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: C J
authors.initials: CJ
authors.lastname: Reinecke
authors.affiliation: Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.affiliation: Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Duran
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D005231:Fatty Acids, Unsaturated / Q000097:blood*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D050769:Isovaleryl-CoA Dehydrogenase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D008297:Male; D009752:Nutritional Status; D055815:Young Adult
chemical_list: D005231:Fatty Acids, Unsaturated; D050769:Isovaleryl-CoA Dehydrogenase