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-β inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.
|Number of pages||3|
|Journal||Journal of Pediatrics|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health