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Bei der Glutarazidurie Typ I (GA I) handelt es sich um eine autosomal-rezessiv vererbte Strung des Lysin-, Hydroxylysin und Tryptophanabbaus, bedingt durch einen Mangel des Enzyms Glutaryl-CoA-Dehydrogenase (GDH). Betroffene Kinder entwickeln meist im 3.6. Lebensmonat unspezifische neurologische Symptome und eine Makrozephalie. Im Rahmen von katabolen Stoffwechsellagen kommt es zu enzephalopathischen...
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