Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:[GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia]. 2142 27
