Phytanate - plasma or serum

Last updated: Saturday, 20, March, 2004

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Item Process
Specimen

5 mL blood in lithium heparin or plain tube.

Method

GC or GCMS.

Reference Interval
3-11 µmol/L.
Application

Diagnosis of Refsum disease and some other peroxisomal diseases eg, Zellweger disease.

Interpretation

Increased levels are found in these diseases although they may be normal in neonates.

Levels are further increased in patients with a large intake of dairy foods.

Reference

Brown FR et al. Amer J Dis Child 1993; 147: 617-626.