Refsum's disease

- autosomal recessive disorder
- caused by defective alpha oxidation of phytanic acid leading to its accumulation in tissues
- onset normally in late teens or 20s
- characterised by sensorimotor peripheral neuropathy, sensorineural deafness, anosmia, cerebellar ataxia, pes cavus, night blindness (retinitis pigmentosa), cardiac conduction abnormalities, epiphyseal dysplasia (shortening of 4th toe)
- elevated serum phytanic acid level
- treatment: dietary restriction of foods containing phytanic acid (chlorophyll)