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  • Title: [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Author: Nagatsu T, Ichinose H.
    Journal: Vopr Med Khim; 1998; 44(3):225-8. PubMed ID: 9703621.
    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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