[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
The development of autosomal dominant DOPA-responsive dystonia (AD-DRD) is stipulated by mutation in GTP-cyclohydrolase I gene. GTP-cyclohydrolase I is the first and key enzyme of tetrahydrobiopterin biosynthesis. Its deficiency in nigrostriatal dopaminergic neurons cause a decrease in tyrosine hydroxylase activity and therefore dopamine deficiency. However, administration of low doses of dopamine can control the development of AD-DRD. Determination of GTP-cyclohydrolase I activity in mononuclear blood cells is convenient diagnostic method.
Institute for Comprehensive Medical Science, Fujita Health University Toyoake, Aichi, Japan. tnagatsu@fujita-hu.ac.jp
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D004295:Dihydroxyphenylalanine / Q000494:pharmacology*; D004421:Dystonia / Q000235:genetics*; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics
D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase