title: L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
abstract: Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose L-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.
authors.affiliation: Department of Neurology, Ignatius Hospital Breda, Nijmegen, The Netherlands.
authors.forename: J F
authors.initials: JF
authors.lastname: de Rijk-Van Andel
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: B
authors.initials: B
authors.lastname: Geurtz
authors.forename: G C
authors.initials: GC
authors.lastname: Steenbergen-Spanjers
authors.forename: L P
authors.initials: LP
authors.lastname: van Den Heuvel
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D006801:Humans; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy* / Q000209:etiology*; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency*
chemical_list: D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase