Phytanate

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.