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.
Neonatal/infantile presentation of profound neurological and systemic dysfunction Neurological and adrenal problems in adolescence/adulthood Retinitis pigmentosa and polyneuropathy in adults
SST (gold top), serum (red top) or heparin (green top)
Up to 3 weeks
Not currently performed in house; this is a referred test. Refsum’s patients only need phytanic acid.