Poulos A, Sharp P, Whiting M
Clin Genet. 1984 Dec;26(6):579-86. doi: 10.1111/j.1399-0004.1984.tb01107.x.
The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro-hepato-renal (Zellweger's) syndrome. The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of which has been identified as 3 alpha, 7 alpha, 12 alpha trihydroxy-5 beta-cholestan-26-oic acid. These changes are similar to those reported in the Zellweger syndrome and indicate that there may be similarities in the metabolic defects in Zellweger's syndrome and the infantile form of Refsum's disease.
植烷酸氧化酶的活性在婴儿型和成人型Refsum病以及脑肝肾（泽尔韦格氏）综合征中较低。婴儿型而非成人型Refsum病患者的血浆中，哌啶酸和至少两种异常胆汁酸的含量增加，其中一种已被鉴定为3α，7α，12α-三羟基-5β-胆甾烷-26-酸。这些变化与泽尔韦格综合征中报道的变化相似，表明泽尔韦格综合征和婴儿型Refsum病在代谢缺陷方面可能存在相似之处。
