Effects of riboflavin in children with complex II deficiency
Effects of riboflavin in children with complex II deficiency
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DOI：
10.1016/j.braindev.2006.04.001
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发表时间：
2006-10-01
影响因子：
1.7
通讯作者：
Uziel, Graziella
中科院分区：
文献类型：
--
作者：
Bugiani, Marianna;Lamantea, Eleonora;Uziel, Graziella
孤立的复合物II缺乏症是婴儿和儿童线粒体疾病的罕见原因。目前没有令人满意的治疗方法，受影响的患者会经历无情的运动和精神恶化。我们报告了三个复杂的II缺乏症的儿童与核黄素口服治疗，谁是平均随访期为4.5年。在两名早发性白质脑病患者中，神经系统状况保持稳定甚至中度改善。在第三个孩子中，在出生后第一年表现为身体生长不良和严重的高乳酸血症，血浆乳酸降低至接近正常水平，并且他没有出现神经系统受累的体征。核黄素补充到培养的成纤维细胞的生长培养基中导致患者的复合物II活性增加2倍，但在对照组中没有。(c)2006 Elsevier B.V.保留所有权利。
Isolated complex II deficiency is a rare cause of mitochondrial disease in infancy and childhood. No satisfactory treatment is currently available, and affected patients undergo a relentlessly progressive motor and mental deterioration. We report on three complex II-deficient children treated with riboflavin per os, who were followed-up for a mean period of 4.5 years. In two patients with early-onset leukoencephalopathy, neurological condition remained stable or even moderately improved. In the third child, presenting in the first year of life with poor somatic growth and severe hyperlactacidemia, plasma lactate decreased to near-normal levels, and he did not develop signs of neurological involvement. Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls. (c) 2006 Elsevier B.V. All rights reserved.