Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
case_report · Level V
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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.
Medical subject headings
- Metabolism, Inborn Errors
- Tyrosine 3-Monooxygenase