McGuinness M C, Moser A B, Poll-The B T, Watkins P A
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Biochem Med Metab Biol. 1993 Apr;49(2):228-42. doi: 10.1006/bmmb.1993.1025.
Complementation analysis, using peroxisomal beta-oxidation of very long chain fatty acids (VLCFA) as the criterion for complementation, is useful in the study of patients who are suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway. Laboratory findings for these patients include elevated plasma VLCFA and impaired VLCFA oxidation in fibroblasts. Some of these patients have slightly abnormal phytanic acid oxidation in fibroblasts. In addition, elevated levels of bile acid intermediates have been reported in some cases. Plasmalogen synthesis, pipecolic acid levels, and subcellular distribution of catalase are normal. Using complementation analysis, we show that six patients, who were suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway, are deficient in peroxisomal bifunctional enzyme [enoyl-CoA hydratase (EC 4.2.1.17)/3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)] activity. This group of six patients, deficient in bifunctional enzyme activity, may be subdivided into two complementation groups. It would appear that patients in each of these two groups are deficient in only one of the bifunctional enzyme activities.
以极长链脂肪酸（VLCFA）的过氧化物酶体β-氧化作为互补标准的互补分析，对于研究疑似在过氧化物酶体β-氧化途径中存在单一酶缺陷的患者很有用。这些患者的实验室检查结果包括血浆VLCFA升高和成纤维细胞中VLCFA氧化受损。其中一些患者的成纤维细胞中植烷酸氧化略有异常。此外，在某些情况下还报告了胆汁酸中间体水平升高。缩醛磷脂合成、哌啶酸水平和过氧化氢酶的亚细胞分布均正常。通过互补分析，我们发现六名疑似在过氧化物酶体β-氧化途径中存在单一酶缺陷的患者，其过氧化物酶体双功能酶[烯酰辅酶A水合酶（EC 4.2.1.17）/3-羟酰基辅酶A脱氢酶（EC 1.1.1.35）]活性缺乏。这六名双功能酶活性缺乏的患者可分为两个互补组。似乎这两个组中的每一组患者仅缺乏双功能酶的一种活性。
