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

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Volume
136
Issue
4
Identifiers
DOI: 10.1016/s0022-3476(00)90027-1
Keywords
  • Clinical And Laboratory Observations
Disciplines
  • Medicine

Abstract

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.

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