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Article

GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 1999

Robinson R, McCarthy G T, Bandmann O, Dobbie M, Surtees R, Wood N W

Abstract excerpt

A family with a dominant form of partial GTP cyclohydrolase deficiency is described. Clinical severity varied from mild involvement with complete responsiveness to levodopa to severe dystonia precluding any voluntary activity including talking, progressive contractures, and only partial responsiveness to levodopa. Although there are several possible reasons for intrafamilial variability, any patient with...

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Identifiers

PMID: 9886460
DOI: 10.1136/jnnp.66.1.86
PMCID: PMC1736164

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Source receipt: pubmed, retrieved 7 Sept 2026.

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