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Article

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

BMC medical genomics - 11 Apr 2026

Lince-Rivera Isabella, Martinez-Córdoba Natalia, Ramón-Gómez Jorge Luis, Cabarcas Lissete, Zarante-Bahamón Ana María

Abstract excerpt

BACKGROUND: Dopa-responsive Dystonia (DRD) due to GTP cyclohydrolase 1 (GTPCH1) deficiency is a neurogenetic disorder caused by pathogenic GCH1 variants. Tetrahydrobiopterin (BH4) deficiency impairs dopamine synthesis in the basal ganglia, leading to childhood-onset dystonia with excellent response to levodopa. CASE PRESENTATION: We report eight patients from three unrelated families with GCH1 (NM_000161.3)...

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Identifiers

PMID: 41965601
DOI: 10.1186/s12920-025-02287-1
PMCID: PMC13251127

Genes

GCH1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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