PHYTANATE - plasma or serum

---

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.

---