Elpeleg O N, Ruitenbeek W, Jakobs C, Barash V, De Vivo D C, Amir N
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
J Pediatr. 1995 Jan;126(1):72-4. doi: 10.1016/s0022-3476(95)70506-6.
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.
一名5岁男孩自出生以来反复出现呕吐和嗜睡，并伴有乳酸性酸中毒和酮症酸中毒。在肌肉和成纤维细胞中发现了硫辛酰胺脱氢酶缺乏症。使用二氯乙酸钠、硫胺素和肉碱进行治疗后，失代偿发作的严重程度和频率降低，血浆乳酸水平接近正常。5岁时，该患者认知功能正常，但有中度运动障碍。
