Article
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Annals of neurology - 1 Jan 2003
Hoffmann Georg F, Assmann Birgit, Bräutigam Christa, Dionisi-Vici Carlo, Häussler Martin, de Klerk Johannes B C, Naumann Markus, Steenbergen-Spanjers Gerry C H, Strassburg Hans-Michael, Wevers Ron A
Abstract excerpt
Tyrosine hydroxylase (TH) is the key enzyme in the biosynthesis of the catecholamines dopamine, epinephrine, and norepinephrine. Recessively inherited deficiency of TH was recently identified and incorporated into recent concepts of genetic dystonias as the cause of recessive Dopa-responsive dystonia or Segawa's syndrome in analogy to dominantly inherited GTP cyclohydrolase I deficiency. We report four patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.