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Pediatr Neurol. 2006 Nov;35(5):308-13.

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

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1
Service de Neuropédiatrie, CHU Montpellier, France. Bernard.Echenne@USherbrooke.ca

Abstract

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.

[Indexed for MEDLINE]

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