PMID- 21429827
OWN - NLM
STAT- MEDLINE
DCOM- 20111123
LR  - 20110622
IS  - 1695-9531 (Electronic)
IS  - 1695-4033 (Linking)
VI  - 75
IP  - 1
DP  - 2011 Jul
TI  - [GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
PG  - 55-7
LID - 10.1016/j.anpedi.2011.01.027 [doi]
AB  - GTP cyclohydrolase 1-deficient dopa- responsive dystonia is an autosomal dominant 
      disorder caused by mutations in the guanosine triphospate (GTP) cyclohydrolase 1 
      gene (GTP-CH1) with incomplete penetrance. This gene is involved in the synthesis 
      of dopamine. It is the dystonia with clinically significant response to levodopa 
      within the group of neurotransmitter inborn errors. We report a case of seven 
      years old female. Her initial symptoms were gait difficulties caused by right 
      foot dystonia with aggravation of symptoms toward the evening. The laboratory 
      studies and neuroimaging were normal. A therapeutic trial with levodopa was 
      started with a dramatic response to low doses. Concentrations of total neopterin 
      (NP) in cerebrospinal fluid (CSF) were reduced. Mutation analysis of the gene 
      GCH1 confirmed the disease (p.W96X, nucleotide change c. 287G>A). After one year 
      of levodopa therapy, we obtained maximum benefit with levodopa/decarboxylase 
      inhibitor with absence of adverse effects.
CI  - Copyright (c) 2010 Asociacion Espanola de Pediatria. Published by Elsevier Espana. 
      All rights reserved.
FAU - Teva Galan, M D
AU  - Teva Galan MD
AD  - Servicio de Pediatria, Hospital General de Elda, Alicante, Espana. 
      lolateva@gmail.com
FAU - Esteban Canto, V
AU  - Esteban Canto V
FAU - Pico Alfonso, N
AU  - Pico Alfonso N
FAU - Jover Cerda, J
AU  - Jover Cerda J
LA  - spa
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Distonia hereditaria sensible a L-dopa secundaria a deficit de GTP ciclohidrolasa 
      1.
DEP - 20110322
PL  - Spain
TA  - An Pediatr (Barc)
JT  - Anales de pediatria (Barcelona, Spain : 2003)
JID - 101162596
RN  - EC 3.5.4.16 (GTP Cyclohydrolase)
RN  - Dystonia, Dopa-responsive
SB  - IM
MH  - Child
MH  - Dystonic Disorders/enzymology/*etiology
MH  - Female
MH  - GTP Cyclohydrolase/*deficiency
MH  - Humans
EDAT- 2011/03/25 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/03/25 06:00
PHST- 2010/09/26 00:00 [received]
PHST- 2011/01/18 00:00 [revised]
PHST- 2011/01/19 00:00 [accepted]
PHST- 2011/03/25 06:00 [entrez]
PHST- 2011/03/25 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - S1695-4033(11)00060-9 [pii]
AID - 10.1016/j.anpedi.2011.01.027 [doi]
PST - ppublish
SO  - An Pediatr (Barc). 2011 Jul;75(1):55-7. doi: 10.1016/j.anpedi.2011.01.027. Epub 
      2011 Mar 22.