Table 1.

Comparison of Peroxisomal Metabolites in Adult Refsum Disease by Gene Involved

Adult Refsum DiseaseNormal
Associated Gene PHYH PEX7 --
Plasma phytanic acid concentration 1 >200 µmol/L 2>200 µmol/L 2<10 µmol/L
Plasma pristanic acid concentration <2 µmol/L<2 µmol/L<3.0 µmol/L
Phytanic acid / pristanic acid ratio Normal
Plasma pipecolic acid concentration Mildly ↑ in 20%NormalNormal
Erythrocyte plasmalogen concentration 1 Normal↓ to normalNormal
Di- & trihydroxycholestanoic acid NormalNormalNormal

Plasma very-long-chain fatty acids (VLCFA) are normal in adult Refsum disease.


Measured by gas chromatography


Plasma phytanic acid concentration may vary considerably because phytanic acid intake is dependent on local diet and may be deceptively low in populations with lower intakes of saturated fatty acids and cholesterol.

From: Adult Refsum Disease

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.