L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
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.
de Rijk-Van Andel
J F
JF
Department of Neurology, Ignatius Hospital Breda, Nijmegen, The Netherlands.
Gabreëls
F J
FJ
Geurtz
B
B
Steenbergen-Spanjers
G C
GC
van Den Heuvel
L P
LP
Smeitink
J A
JA
Wevers
R A
RA
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*
D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase