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Article

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

Human genetics - 1 Sept 1999

Hwu W L, Wang P J, Hsiao K J, Wang T R, Chiou Y W, Lee Y M

Abstract excerpt

GTP cyclohydrolase I (GTPCH) catalyzes the rate-limiting step of tetrahydrobiopterin (BH4) biosynthesis. GTPCH has been associated with two clinically distinct human diseases: the recessive hyperphenylalaninemia (HPA) and the dominant dopa-responsive dystonia (DRD). We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. Her PHA-stimulated mononuclear blood cells had a normal amount of GTPCH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10987649
DOI: 10.1007/s004390051093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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