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Hilfsmechanismen Des Stoffwechsels I

Hilfsmechanismen Des Stoffwechsels I

          
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wurden 150-280 mg% genannt). Entsprechend lag auch der Serumcholesterinwert mit 22 mg %, der Serumphosphorlipidwert mit 45 mg % und der Gesamtlipidwert mit 80 mg% extrem niedrig. Carotinoide konnten überhaupt nicht nachgewiesen werden, und der Vitamin A-Gehalt war mindestens auf 1/ der Norm herabgesetzt. 5 Die Autoren brachten ihre Beobachtung mit der Beschreibung von vier weiteren Fällen von Acanthocytose und Hypocholesterinämie (37-60 mg%) in Zusammenhang, bei welchen zwar auf A-ß-Lipoproteidämie nicht untersucht worden war, die aber durch die große Ähnlichkeit der Symptome als gleiche Krankheit imponierten. Bei allen vier Personen war Konsanguinität bei Eltern oder Großeltern vorhanden. Von größter Bedeutung waren Verlaufsbeobach- tungen über mehrere Jahre!, welche Schlüsse auf die Entwicklung, also auch auf die Folgen des ß-Lipoproteidmangels, erlaubten. Alle Kranken, auch der von SALT beobachtete Fall, zeigten cöliakieähnliche Symptome: Durchfallperioden, Fett- stühle und röntgenologisch weite Dünndarmlumina. Die älteren Patienten litten an einer atypischen Retinitis pigmentosa und an einer Ataxie vom Typ Friedreich 2. Bei einem vom 13. bis 19. Lebensjahr beobachteten Knaben entwickelte sich in 3 dieser Zeit die Retinitis, und es verstärkten sich die neurologischen Symptome - Daraus ergab sich der naheliegende Schluß, daß die Progredienz des Leidens ihre Ursache in einem durch Transport- bzw. Vehikelinsuffizienz fortwirkenden spezifisch lokalisierten Mangelzustand haben kann. Ob der Mangel an Blut- lipiden oder an in Lipiden gelösten Vitaminen und Wirkstoffen (etwa Vitamin A oder Carotinoid) bedeutungsvoller ist, das kann noch nicht näher bestimmt werden.


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Product Details
  • ISBN-13: 9783642948251
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
  • Binding: Paperback
  • Height: 244 mm
  • No of Pages: 1066
  • Series Title: German
  • Weight: 1689 gr
  • ISBN-10: 3642948251
  • Publisher Date: 10 Apr 2012
  • Edition: Softcover reprint of the original 1st ed. 1961
  • Language: English
  • Returnable: Y
  • Spine Width: 54 mm
  • Width: 170 mm


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