Refsum S
Arch Neurol. 1981 Oct;38(10):605-6. doi: 10.1001/archneur.1981.00510100033003.
Heredopathia atactica polyneuritiformis (phytanic-acid storage disease, Refsum's disease) is an inborn error of metabolism, in which the body accumulates exogenous phytanic acid. The severe manifestations of this disease, which include pigmentary retinal degeneration, chronic polyneuropathy, ataxia, impaired hearing, and cardiopathy, can be either kept from worsening or reversed by elimination of foods rich in phytanic acid from patients' diets. This is borne out by a 20-year experience with two patients, whose conditions improved markedly once they stopped eating butter, animal fat, and other foods rich in phytanic acid.
遗传性共济失调性多神经炎型（植烷酸贮积病，雷夫叙姆病）是一种先天性代谢紊乱疾病，患者体内会蓄积外源性植烷酸。该病的严重症状包括色素性视网膜变性、慢性多发性神经病、共济失调、听力受损和心脏病，通过从患者饮食中去除富含植烷酸的食物，这些症状可以得到缓解或逆转。这一点在两名患者的20年治疗经历中得到了证实，他们停止食用黄油、动物脂肪和其他富含植烷酸的食物后，病情明显改善。
