Abstract
The activities of galactokinase and of galactose-1-phosphate-uridyltransferase have been measured in blood cells of 38 patients with GDo-trisomy and of 51 normal persons. The mongoloids show higher activities of both enzymes than the controls. In the children up to 15 years, mongoloids as well as normals, an age dependency has been found: the enzyme activities decrease with increasing age.
Mongoloid children show an increase of the kinase activity of 39% and of the transferase activity of 41% compared with normal controls of the same age groups. Some hypothetical interpretations of these results are discussed.
Zusammenfassung
Die Messung der Aktivitäten der Galaktokinase und der Galaktose-1-phosphat-uridyltransferase an Blutzellen bei 38 Mongoloiden und 51 Normalpersonen ergab, daß bei Mongoloiden die Aktivitäten beider Enzyme erhöht sind.
Bei bis zu 15 Jahre alten Probanden beider Stichproben nehmen beide Enzymaktivitäten mit zunehmendem Alter ab. Der Vergleich zweier Stichproben gleichen Durchschnittsalters ergibt bei Mongoloiden eine Erhöhung der Kinase um 39%, der Transferase um 41%. Hypothesen zur Deutung dieser Befunde werden diskutiert.
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Direktor: Prof. Dr. med. Dr. H. Baitsch
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Krone, W., Wolf, U., Goedde, H.W. et al. Untersuchungen über die Aktivität der Galaktokinase im Blut von Normalpersonen und von Patienten mit GDo-Trisomie. Humangenetik 1, 279–288 (1965). https://doi.org/10.1007/BF00395658
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DOI: https://doi.org/10.1007/BF00395658