Abstract: 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
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Reference: Nagatsu Toshi, Ichinose Hiroshi, Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene, Voprosy meditsinskoi khimii, 1998, vol: 44(3), 225-228.
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