Sepiapterin reductase deficiency:: Clinical presentation and evaluation of long-term therapy

被引:25
作者
Echenne, Bernard
Roubertie, Agathe
Assmann, Birgit
Lutz, Thomas
Penzien, Johann M.
Thoeny, Beat
Blau, Nenad
Hoffmann, Georg F.
机构
[1] Univ Sherbrooke, Dept Pediat, Serv Neuropediat, CHUS, Sherbrooke, PQ J1H 5N4, Canada
[2] CHU Montpellier, Serv Neuropediat, Montpellier, France
[3] Univ Dusseldorf, Childrens Hosp, D-4000 Dusseldorf, Germany
[4] Heidelberg Univ, Childrens Hosp, D-6900 Heidelberg, Germany
[5] Univ Zurich, Childrens Hosp, Zurich, Switzerland
[6] Klin Kinder, Angsburg, Germany
关键词
D O I
10.1016/j.pediatrneurol.2006.05.006
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:308 / 313
页数:6
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