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

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-beta inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.

• Authors: C Dionisi-Vici, G F Hoffmann, V Leuzzi, H Hoffken, C Bräutigam, C Rizzo, G C Steebergen-Spanjers, J A Smeitink, R A Wevers
• Journal: The Journal of pediatrics (J Pediatr) Vol. 136 Issue 4 Pg. 560-2 (Apr 2000) ISSN: 0022-3476 [Print] United States
• PMID: 10753262 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Dopamine Agents
• Monoamine Oxidase Inhibitors
• Selegiline
• Levodopa
• Tyrosine 3-Monooxygenase

Topics

• Child, Preschool
• Dopamine Agents (administration & dosage, adverse effects)
• Drug Therapy, Combination
• Humans
• Levodopa (administration & dosage, adverse effects)
• Male
• Metabolism, Inborn Errors (diagnosis, drug therapy, metabolism)
• Monoamine Oxidase Inhibitors (administration & dosage)
• Selegiline (administration & dosage)
• Tyrosine 3-Monooxygenase (deficiency)