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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

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