{"id":11378,"date":"2025-07-26T21:57:22","date_gmt":"2025-07-26T19:57:22","guid":{"rendered":"https:\/\/valintermed.com\/?p=11378"},"modified":"2025-07-26T21:57:22","modified_gmt":"2025-07-26T19:57:22","slug":"defitsit-gtf-tsiklogidrolazy-1","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/gtf-tsiklogidrolazy-1-deficiency\/","title":{"rendered":"GTP cyclohydrolase 1 deficiency"},"content":{"rendered":"
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GTP cyclohydrolase 1 (GCH1) deficiency is a rare inherited disorder associated with impaired neurotransmitter metabolism, resulting in a deficiency of tetrahydrobiopterin (THBP), a key cofactor involved in the synthesis of dopamine, serotonin, and norepinephrine. This condition results in a variety of neurological manifestations, including disorders such as dystonia, hypertonia, psychomotor retardation, and behavioral disorders. GTP cyclohydrolase 1 deficiency can manifest itself in childhood and adulthood, with a wide variability of clinical symptoms, which complicates its diagnosis and treatment. The disease has a complex pathogenesis, which is not fully understood, but existing data are aimed at improving diagnostics and therapeutic approaches.<\/p>\n

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