Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy - 10/08/11
†, ⁎ 
, Agathe Roubertie, MD, PhD , Birgit Assmann, MD ‡, §, Thomas Lutz, MD §, Johann M. Penzien, MD 
, Beat Thöny, PhD ¶, Nenad Blau, PhD ¶, Georg F. Hoffmann, MD § Service de Neuropédiatrie, CHU Montpellier, France Klinik fur Kinder, Augsburg, Germany Communications should be addressed to: Dr. Echenne; Service de neuropédiatrie; Département de pédiatrie; Université de Sherbrooke; 3001, 12e Avenue Nord; CHUS; Fleurimont, Québec; J1H 5N4, Canada.Résumé |
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.
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Vol 35 - N° 5
P. 308-313 - novembre 2006 Retour au numéro
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