Disease

Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency1, 2

Gene

GCH1

Inheritance AR and AD
Current Treatments Dominant form: levodopa combined with a decarboxylase inhibitor. Recessive form: levodopa combined with a decarboxylase inhibitor, 5-hydroxytryptophan, and BH4
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test CSF neurotransmitter metabolites and pterins1
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC128
Disease Frequency (per 100,000) 0.7254, 5
Genes Included in Disease Frequency TH, GCH1, SPR
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Dopa+Responsive+Dystonia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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