Very long chain fatty acids
| Category | Biochemistry |
|---|---|
| Test background |
Peroxisomal functions include beta-oxidation of very long chain fatty acids, alpha-oxidation of 3-methyl fatty acids (eg. phytanic acid) and biosynthesis of ether lipids. Peroxisomal defects range from complete absence (eg. Zellweger syndrome) to single-enzyme defects. |
| Clinical Indications |
Neonatal/infantile presentation of profound neurological and systemic dysfunction Neurological and adrenal problems in adolescence/adulthood Retinitis pigmentosa and polyneuropathy in adults |
| Reference range | See report |
| Sample & container required | SST (gold top), serum (red top) or heparin (green top) |
| Sample volume | 0.5 mL |
| Turnaround time | Up to 3 weeks |
| Notes | Not currently performed in house; this is a referred test. Refsum’s patients only need phytanic acid. |