Tyrosine hydroxylase deficiency (THD) is a disorder caused by disfunction of tyrosine hydroxylase, an enzyme involved in the biosynthesis of dopamine. This condition is one of the causes of dopa-responsive dystonia. See more Patients present with symptoms reflecting the decreased production of dopamine: hypokinetic-rigid syndrome, dystonia, complex encephalopathy. Symptom severity and age at onset are highly variable. A review … See more The first case reports of "Segawa syndrome" and parkinsonism caused by mutations in the tyrosine hydroxylase gene were published in 1995 and 1996. See more • Segawa syndrome, autosomal recessive- description in the OMIM compendium. See more In order to diagnose tyrosine hydroxylase deficiency, a sample of the patient's cerebrospinal fluid may be obtained to assess … See more Patients with tyrosine hydroxylase deficiency are treated with L-dopa in conjunction with decarboxylase inhibitors. A significant percentage of patients do not achieve a complete … See more • Autosomal recessive Segawa syndrome (autosomal dominant Segawa syndrome affects a different gene, GCH1) • DYT/PARK-TH - designation in … See more Web2 Aug 2024 · THD Products. THD can offer a complete range of surgical and diagnostic products for the advanced diagnosis and treatment of common colorectal disorders. …
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