Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
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.
Dionisi-Vici
C
C
Department of Metabolism, Bambino Gesù Hospital, Rome, Italy.
Hoffmann
G F
GF
Leuzzi
V
V
Hoffken
H
H
Bräutigam
C
C
Rizzo
C
C
Steebergen-Spanjers
G C
GC
Smeitink
J A
JA
Wevers
R A
RA
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*
D015259:Dopamine Agents; D008996:Monoamine Oxidase Inhibitors; D012642:Selegiline; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase