Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia
- 1 January 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 52 (1) , 182
- https://doi.org/10.1212/wnl.52.1.182
Abstract
Article abstract 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 <50% of normal; therefore hyperphenylalaninemia would be evident only in homozygotes.Keywords
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