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Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
Echenne, Bernard; Roubertie, Agathe; Assmann, Birgit; Lutz, Thomas; Penzien, Johann M; Thöny, Beat; Blau, Nenad; Hoffmann, Georg F.
Afiliação
  • Echenne B; Service de Neuropédiatrie, CHU Montpellier, France. Bernard.Echenne@USherbrooke.ca
Pediatr Neurol ; 35(5): 308-13, 2006 Nov.
Article em En | MEDLINE | ID: mdl-17074599
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.
Assuntos
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Base de dados: MEDLINE Assunto principal: Oxirredutases do Álcool / Erros Inatos do Metabolismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2006 Tipo de documento: Article
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Base de dados: MEDLINE Assunto principal: Oxirredutases do Álcool / Erros Inatos do Metabolismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2006 Tipo de documento: Article