Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
J Pediatr
; 136(4): 560-2, 2000 Apr.
Article
em En
| MEDLINE
| ID: mdl-10753262
Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransmitters and DNA analysis in a child with severe axial hypotonia and hypokinesia associated with dystonic and ballistic movements. L-dopa therapy was unsuccessful, whereas a combination with selegiline, a selective monoamine oxidase-beta inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tirosina 3-Mono-Oxigenase
/
Erros Inatos do Metabolismo
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
Estados Unidos