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. |