Imperial Collage Healthcare

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
See report

Sample 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.

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