A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia).
DISEASE, REFSUM'S
Meaning of DISEASE, REFSUM'S in English
English dictionary of medicine. Английский словарь медицины. 2012