Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M
Divisione di Neuropsichiatria Infantile, Istituto Neurologico C. Besta, Milano, Italia.
Dev Neurosci. 1991;13(4-5):274-9. doi: 10.1159/000112173.
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X-linked adrenoleukodystrophy (ALD). Six patients were very severely affected, 9 had milder neurological symptoms and 5 were presymptomatic. Mean basal levels of plasma C26:0 were 1.41 +/- 0.48 micrograms/ml in ALD patients (control values: 0.33 +/- 0.12). In all patients C26:0 decreased to virtually normal values. In spite of good biochemical response and absence of consistent side effects of therapy, no encouraging data were observed during the clinical follow-up. The presymptomatic subjects were still free of symptoms after more than 1 year of therapy. The symptomatic patients, however worsened or did not show any improvement.
我们报告了对20例X连锁肾上腺脑白质营养不良（ALD）患者进行膳食芥酸（C22:1）治疗期间获得的生化和临床结果。6例患者病情非常严重，9例有较轻的神经症状，5例为症状前患者。ALD患者血浆C26:0的平均基础水平为1.41±0.48微克/毫升（对照值：0.33±0.12）。所有患者的C26:0均降至几乎正常的值。尽管生化反应良好且治疗没有持续的副作用，但在临床随访期间未观察到令人鼓舞的数据。症状前受试者在治疗1年多后仍无症状。然而，有症状的患者病情恶化或没有任何改善。
