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-β inhibitor, with low-dose L-dopa markedly improved the severe clinical picture. (J Pediatr 2000;136:560-2)