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