Roe C R, Millington D S, Maltby D A, Bohan T P, Hoppel C L
J Clin Invest. 1984 Jun;73(6):1785-8. doi: 10.1172/JCI111387.
Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant magnetic (B) to electric (E) field ratio identified the acylcarnitine as propionylcarnitine in patients with propionic acidemia. The normal children excreted mostly acetylcarnitine. Propionic acidemia and other organic acidurias are characterized by the intramitochondrial accumulation of short-chain acyl-Coenzyme A (CoA) compounds. The substrate specificity of the carnitine acetyltransferase enzyme and its steady state nature appears to facilitate elimination of propionyl groups while restoring the acyl-CoA:free CoA ratio in the mitochondrion. We suggest that L-carnitine may be a useful therapeutic approach for elimination of toxic acyl CoA compounds in several of these disorders.
左旋肉碱治疗显著增强了三名丙酸血症患者和三名正常对照者体内短链酰基肉碱的生成和排泄。使用快原子轰击质谱法以及在恒定磁场（B）与电场（E）比值下的联动扫描，确定丙酸血症患者体内的酰基肉碱为丙酰肉碱。正常儿童主要排泄乙酰肉碱。丙酸血症和其他有机酸尿症的特征是线粒体中短链酰基辅酶A（CoA）化合物的蓄积。肉碱乙酰转移酶的底物特异性及其稳态性质似乎有助于消除丙酰基团，同时恢复线粒体中酰基辅酶A与游离辅酶A的比例。我们认为左旋肉碱可能是消除这些疾病中几种有毒酰基辅酶A化合物的一种有用的治疗方法。
