Clinical Biochemistry

Very long chain fatty acids

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

Sample Required
SST (gold top), serum (red top) or heparin (green top)

Sample Volume
0.5 mL

Turnaround Time
Up to 6 weeks

Notes
Not currently performed in house; this is a referred test.
Refsum’s patients only need phytanic acid.