Venizelos N, Ijlst L, Wanders R J, Hagenfeldt L
Department of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Sweden.
Pediatr Res. 1994 Jul;36(1 Pt 1):111-4. doi: 10.1203/00006450-199407001-00020.
The activities of 3-hydroxyacyl-CoA dehydrogenase, enoyl-CoA hydratase, and 3-ketoacyl-CoA thiolase were measured in fibroblasts from eight patients with 3-hydroxydicarboxylic aciduria. Measurement of 3-hydroxyacyl-CoA dehydrogenase with 3-ketopalmitoyl-CoA as substrate provided conclusive evidence for a deficiency of the long-chain 3-hydroxyacyl-CoA dehydrogenase in seven of the patients. Measurement of the enzyme in the normal direction cannot be recommended because this gives a higher residual activity. A trifunctional enzyme protein is responsible for the 3-hydroxyacyl-CoA dehydrogenase as well as for the hydratase and thiolase activities. A slight decrease in one or both of the other two activities was observed in four of the seven deficient patients, indicating that a defect in the trifunctional enzyme protein may affect the three enzyme activities to different degrees.
对8例3-羟基二羧酸尿症患者的成纤维细胞中的3-羟基酰基辅酶A脱氢酶、烯酰辅酶A水合酶和3-酮酰基辅酶A硫解酶的活性进行了测定。以3-酮棕榈酰辅酶A为底物测定3-羟基酰基辅酶A脱氢酶，结果确凿地证明7例患者存在长链3-羟基酰基辅酶A脱氢酶缺乏。不建议按常规方向测定该酶，因为这样会得出较高的残余活性。一种三功能酶蛋白负责3-羟基酰基辅酶A脱氢酶以及水合酶和硫解酶的活性。在7例缺乏该酶的患者中有4例观察到另外两种活性中的一种或两种略有下降，这表明三功能酶蛋白的缺陷可能会不同程度地影响这三种酶的活性。
