Van Hove J L, Kahler S G, Feezor M D, Ramakrishna J P, Hart P, Treem W R, Shen J J, Matern D, Millington D S
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
J Inherit Metab Dis. 2000 Sep;23(6):571-82. doi: 10.1023/a:1005673828469.
The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C14:1, C14, C16 and C18:1 chain length, and long-chain acylcarnitines of C12, C14:1, C14, C16, C18:2 and C18:1 chain length were elevated. Acetylcarnitine was decreased. In plasma, elevation of hydroxy-C18:1 acylcarnitine over the 95th centile of controls, in combination with an elevation of two of the three acylcarnitines C14, C14:1 and hydroxy-C16, identified over 85% of patients with high specificity (less than 0.1% false positive rate). High endogenous levels of long-chain acylcarnitines in normal erythrocytes reduced the diagnostic specificity in blood spots compared with plasma samples. The results were also diagnostic in asymptomatic patients, and were not influenced by genotype. Treatment with diet low in fat and high in medium-chain triglyceride decreased all disease-specific acylcarnitines, often to normal, suggesting that this assay is useful in treatment monitoring.
对23例经证实患有长链3-羟基酰基辅酶A脱氢酶缺乏症患者的血浆和血斑中的酰基肉碱进行了回顾。链长为C14:1、C14、C16和C18:1的长链3-羟基酰基肉碱，以及链长为C12、C14:1、C14、C16、C18:2和C18:1的长链酰基肉碱升高。乙酰肉碱降低。在血浆中，羟基-C18:1酰基肉碱升高超过对照组第95百分位数，同时C14、C14:1和羟基-C16这三种酰基肉碱中的两种升高，可高度特异性地识别超过85%的患者（假阳性率低于0.1%）。与血浆样本相比，正常红细胞中高内源性水平的长链酰基肉碱降低了血斑诊断的特异性。这些结果对无症状患者也具有诊断意义，且不受基因型影响。低脂、高链甘油三酯饮食治疗可降低所有疾病特异性酰基肉碱水平，通常降至正常，表明该检测方法对治疗监测有用。
