Journal
PEDIATRIC NEUROLOGY
Volume 35, Issue 5, Pages 308-313Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2006.05.006
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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.
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