Steinberg D, Herndon J H, Uhlendorf B W, Mize C E, Avigan J, Milne G W
Science. 1967 Jun 30;156(3783):1740-2. doi: 10.1126/science.156.3783.1740.
Two siblings with Refsum's disease, an inherited disorder of lipid metabolism, oxidized intravenously injected uniformly labeled phytanic acid-C(14) at rates less than 5 percent of those found in normal subjects. The defect in oxidation of phytanic acid persisted in cultures of fibroblasts from the patients' skin. The rate of oxidation of the phytanic acid-C(14) was less than 1 percent of that found in cultures of fibroblasts from normal skin. However, pristanic acid, previously shown to be the first product of phytanic acid degradation, was oxidized at a normal rate in the patients' cultures. These results indicate that the enzymatic defect in Refsum's disease is in the first step of the pathway for degradation of phytanic acid, that is, in the unusual alpha-oxidative process that leads to a shortening of phytanic acid by one carbon atom.
两名患有雷夫叙姆病（一种遗传性脂质代谢紊乱疾病）的兄弟姐妹，静脉注射均匀标记的植烷酸-C(14)后的氧化速率低于正常受试者的5%。患者皮肤成纤维细胞培养物中植烷酸氧化缺陷持续存在。植烷酸-C(14)的氧化速率低于正常皮肤成纤维细胞培养物中的1%。然而，之前已证明是植烷酸降解的首个产物的降植烷酸，在患者培养物中的氧化速率正常。这些结果表明，雷夫叙姆病中的酶缺陷存在于植烷酸降解途径的第一步，即在导致植烷酸碳原子数减少一个的特殊α-氧化过程中。
