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Article

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Movement disorders clinical practice - 1 Sept 2024

Novelli Maria, Tolve Manuela, Quiroz Vicente, Carducci Claudia, Bove Rossella, Ricciardi Giacomina, Yang Kathryn, Manti Filippo, Pisani Francesco, Ebrahimi-Fakhari Darius, Galosi Serena, Leuzzi Vincenzo

Abstract excerpt

BACKGROUND: The GCH1 gene encodes the enzyme guanosine triphosphate cyclohydrolase I (GTPCH), which catalyzes the rate-limiting step in the biosynthesis of tetrahydrobiopterin (BH4), a critical cofactor in the production of monoamine neurotransmitters. Autosomal dominant GTPCH (adGTPCH) deficiency is the most common cause of dopa-responsive dystonia (DRD), whereas the recessive form (arGTPCH) is an ultrarare and...

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PMID: 39001623
DOI: 10.1002/mdc3.14157
PMCID: PMC11452796

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