Stagnaro-Neri M, Stagnaro S
U.S.L. Chiavari.
Clin Ter. 1994 Aug;145(8):135-40.
Up till now it has been possible to demonstrate carnitine deficiency, after separating non esterified carnitine and acyl-carnitines, by some sophisticated assays: photometric methods, enzymatic and radio-enzymatic-methods, gas chromatography, HPLC, mass spectrometry. This diagnostic approach is not easy for the general practitioner; therefore, the diagnosis of carnitine deficiency is often delayed and delegated to the specialist. In this paper signs of the syndrome and how to find them by the aid of auscultatory percussion are fully described for the first time. This knowledge will be helpful to the general practitioner both from technical point of view--diagnosis of carnitine deficiency--and for monitoring the results of therapy.
到目前为止，通过一些复杂的检测方法，在分离出非酯化肉碱和酰基肉碱后，可以证实肉碱缺乏：光度法、酶法和放射酶法、气相色谱法、高效液相色谱法、质谱分析法。这种诊断方法对普通医生来说并不容易；因此，肉碱缺乏症的诊断往往会延迟，而交给专科医生处理。本文首次全面描述了该综合征的体征以及如何借助听诊叩诊来发现这些体征。这些知识无论从技术角度（肉碱缺乏症的诊断）还是治疗结果监测方面，对普通医生都将有所帮助。
