Lam C W, Lau C H, Williams J C, Chan Y W, Wong L J
Department of Pathology, Princess Margaret Hospital, Lai Chi Kok, Hong Kong.
Eur J Pediatr. 1997 Jul;156(7):562-4. doi: 10.1007/s004310050663.
We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) was subsequently diagnosed and a nucleotide 3243 A-->G mutation was detected in the mitochondrial DNA. This mutation predisposes the patient to the detrimental effects of valproate on oxidative phosphorylation.
We support the suggestion of Ponchaut et al. [14] that valproate should not be given to patients suspected of having mitochondrial diseases. In addition, for patients whose seizures worsen with valproate therapy, an inborn error of mitochondrial metabolism should be suspected. The underlying mitochondrial DNA defects should be sought for family screening and genetic counselling.
在本研究中，我们报告了一名因丙戊酸盐治疗而反复出现惊厥的患者。随后诊断为线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS），并在线粒体DNA中检测到3243A→G核苷酸突变。该突变使患者易受丙戊酸盐对氧化磷酸化的有害影响。
我们支持庞肖特等人[14]的建议，即不应将丙戊酸盐给予疑似患有线粒体疾病的患者。此外，对于丙戊酸盐治疗后癫痫发作加重的患者，应怀疑线粒体代谢先天性缺陷。应寻找潜在的线粒体DNA缺陷进行家族筛查和遗传咨询。
