Phytanate - plasma or serum
Last updated: Saturday, 20, March, 2004
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5 mL blood in lithium heparin or plain tube.
GC or GCMS.
| Reference Interval||3-11 µmol/L.|
Diagnosis of Refsum disease and some other peroxisomal diseases eg, Zellweger disease.
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.
Brown FR et al. Amer J Dis Child 1993; 147: 617-626.