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