title: 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.affiliation: Department of Metabolism, Bambino Gesù Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: H
authors.initials: H
authors.lastname: Hoffken
authors.forename: C
authors.initials: C
authors.lastname: Bräutigam
authors.forename: C
authors.initials: C
authors.lastname: Rizzo
authors.forename: G C
authors.initials: GC
authors.lastname: Steebergen-Spanjers
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D002675:Child, Preschool; D015259:Dopamine Agents / Q000008:administration & dosage / Q000009:adverse effects; D004359:Drug Therapy, Combination; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000009:adverse effects; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy* / Q000378:metabolism; D008996:Monoamine Oxidase Inhibitors / Q000008:administration & dosage; D012642:Selegiline / Q000008:administration & dosage; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency*
chemical_list: D015259:Dopamine Agents; D008996:Monoamine Oxidase Inhibitors; D012642:Selegiline; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase