Fontaine M, Briand G, Vallée L, Ricart G, Degand P, Divry P, Vianey-Saban C, Vamecq J
Laboratoire de Biochimie, Hôpital Huriez, Centre Hospitalo-Universitaire de Lille, France.
Clin Chim Acta. 1996 Aug 30;252(2):109-22. doi: 10.1016/0009-8981(96)06323-1.
Carnitine levels and acylcarnitine profiles in a patient with mild multiple acyl-CoA dehydrogenase deficient beta-oxidation were compared with control results. Whereas blood and urine total carnitine levels were moderately decreased, blood esterified carnitine levels in the patient were about 2-fold higher than in controls. Urinary acylcarnitine profiles presented with a larger variety of carnitine esters than in controls and included propionylcarnitine, butyrylcarnitine, 2-methylbutyrylcarnitine, hexanoylcarnitine and octanolycarnitine. Total carnitine levels in body fluids were similarly affected by chronic oral L-carnitine administration in patient and controls. By contrast, esterified carnitine level increase was 2-fold more important in controls than in patient. Whereas no qualitative changes in urinary acylcarnitine profiles were induced by L-carnitine therapy in controls, several alterations of these profiles were observed in the patient. The effect of starvation on metabolites was also studied, especially beta-oxidation rates assessed by free fatty acids to 3-hydroxybutyric acid ratios in blood from the patient in the untreated and L-carnitine treated states. In the L-carnitine-supplemented patient, the effect of starvation on the time course of carnitine levels and acylcarnitine profiles could also be documented. The ability of chronic oral L-carnitine administration to remove relatively less important amounts of acylcarnitines in the patient than in controls is further discussed, as well as qualitative alterations of acylcarnitine profiles induced by this therapy in the pathological condition.
将一名患有轻度多种酰基辅酶A脱氢酶缺乏β氧化的患者的肉碱水平和酰基肉碱谱与对照结果进行了比较。虽然血液和尿液中的总肉碱水平适度降低，但患者血液中的酯化肉碱水平比对照组高约2倍。尿液酰基肉碱谱中出现的肉碱酯种类比对照组更多，包括丙酰肉碱、丁酰肉碱、2-甲基丁酰肉碱、己酰肉碱和辛酰肉碱。患者和对照组通过长期口服L-肉碱，体液中的总肉碱水平受到类似影响。相比之下，对照组酯化肉碱水平的升高比患者高2倍。虽然L-肉碱治疗未在对照组中引起尿液酰基肉碱谱的定性变化，但在患者中观察到了这些谱的几种改变。还研究了饥饿对代谢物的影响，特别是通过未治疗和L-肉碱治疗状态下患者血液中游离脂肪酸与3-羟基丁酸的比率评估的β氧化速率。在补充L-肉碱的患者中，也可以记录饥饿对肉碱水平和酰基肉碱谱时间进程的影响。进一步讨论了长期口服L-肉碱给药在患者中比在对照组中清除相对较少数量酰基肉碱的能力，以及这种疗法在病理状态下引起的酰基肉碱谱的定性改变。
