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Article

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.

Neurology - 1 Jan 1999

Hirano M, Ueno S

Abstract excerpt

Guanosine 5'-triphosphate cyclohydrolase I (GCH) mutants (H144P and T186K) associated with dominant dopa-responsive dystonia were enzymatically inactive and inhibited the normal enzyme, suggesting that GCH activity in a heterozygote was <50% of control. The M211I mutant associated with recessive hyperphenylalaninemia was slightly active and had no inhibitory effects, so GCH activity in a heterozygote would be...

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Identifiers

PMID: 9921872
DOI: 10.1212/wnl.52.1.182

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.PMID 9921872Read ↗

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A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.Semantic proximity Read ↗

[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].Semantic proximity Read ↗

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.Semantic proximity Read ↗

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.Semantic proximity Read ↗

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