Sepiapterin reductase deficiency:: Clinical presentation and evaluation of long-term therapy
Sepiapterin reductase deficiency:: Clinical presentation and evaluation of long-term therapy
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DOI：
10.1016/j.pediatrneurol.2006.05.006
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发表时间：
2006-11-01
影响因子：
3.8
通讯作者：
Hoffmann, Georg F.
中科院分区：
文献类型：
--
作者：
Echenne, Bernard;Roubertie, Agathe;Hoffmann, Georg F.
Sepiapterin还原酶缺乏症最近被认为是一种可治疗的、先天性的蝶呤代谢错误。这项研究是第一项长期临床研究，显示出两例sepiapterin还原酶缺乏症分别在治疗2年和5年后取得了令人印象深刻的积极和长期效果。这两名患者在7岁和13岁之前没有被诊断出来。这些结果强调了脑脊液神经递质研究在儿童脑病中的重要性，在不明原因的早发性神经障碍的情况下。这种广泛的方法对儿童时期运动发育迟缓的早发性脑病的诊断是重要的，因为我们拥有一种简单而有效的治疗方法。(C)2006，Elsevier Inc.保留所有权利。
Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term clinical study demonstrating impressive positive, long-term effects of treatment in two cases of sepiapterin reductase deficiency after 2 and 5 years of treatment respectively. The two patients were not diagnosed before 7 and 13 years of age. These results highlight the importance of cerebrospinal fluid neurotransmitter investigations in childhood encephalopathy, in cases of unexplained early-onset neurologic handicap. Such a widened approach to the diagnostic efforts in early-onset encephalopathy with motor delay during childhood is important, as we have at our disposal a simple and effective treatment. (c) 2006 by Elsevier Inc. All rights reserved.