Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy

Carlo Dionisi-Vici, Georg F. Hoffmann, Vincenzo Leuzzi, Helmut Hoffken, Christa Bräutigam, Cristiano Rizzo, Gerry C H Steebergen-Spanjers, Jan A M Smeitink, Ron A. Wevers

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)560-562
Number of pages3
JournalJournal of Pediatrics
Volume136
Issue number4
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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