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
Nagatsu Toshi, Ichinose Hiroshi (1998) Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene. Voprosy Meditsinskoi Khimii, 44(3), 225-228.
Nagatsu Toshi et al. Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene // Voprosy Meditsinskoi Khimii. - 1998. - V. 44. -N 3. - P. 225-228.
Nagatsu Toshi et al., "Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene." Voprosy Meditsinskoi Khimii 44.3 (1998): 225-228.
Nagatsu, Toshi,, Ichinose, Hiroshi (1998). Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene. Voprosy Meditsinskoi Khimii, 44(3), 225-228.
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