Zusammenfassung
Fünf galaktosämische und 5 normale Kinder wurden unter standardisierten Bedingungen oral mit Galaktose belastet. Nach 1,5 Std wurde bei Kindern mit inaktiver Uridylyltransferase (EC2.7.7.12) ein maximaler Galaktosegehalt im Vollblut von 12,6±2,0 (S.D.) mmol/l erreicht; der entsprechende Wert bei den Kontrollkindern betrug 5,8±1,2 (S.D.) mmol/l. Die Harnsäurekonzentration im Serum der Galaktosämiker stieg dabei auf 155% der Ausgangswerte an (P<0.005); ein Anstieg bei den Kontrollkindern blieb aus. Die Harnsäureausscheidung im Urin war bei beiden Gruppen in gleichem Ausmaß erhöht. Die Befunde sprechen für einen vermehrten Nucleotidabbau in der galaktosämischen Leber unter Galaktosebelastung; ein Nucleotidmangel wird als Ursache der galaktosämischen Leberschädigung diskutiert.
Summary
Five galactosemic and 5 normal children received an oral load of galactose under standardized conditions. The maximal blood galactose level after 1.5 hours was 12.6±2.0 (S.D.) mmol/l in individuals with a deficiency of uridylyl transferase (EC2.7.7.12) as compared to 5.8±1.2 (S.D.) mmol/l in the controls. The concentration of serum urate in galactosemics increased to 155% of the fasting level (P<0.005); no rise was detectable in the controls. The elimination of urate with the urine was augmented by the same amount in both groups. Our studies provide evidence for an increased catabolism of hepatic nucleotides. This may lead to a deficiency of nucleotides which is proposed as a cause of galactosemic liver injury.
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This work was supported by grants from the Deutsche Forschungsgemeinschaft, Bonn-Bad Godesberg, Ke 200/3, and “Forschergruppe Leberkrankheiten”, Freiburg.
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Forster, J., Schuchmann, L., Hans, C. et al. Increased serum urate in galactosemia patients after a galactose load: A possible role of nucleotide deficiency in galactosemic liver injury. Klin Wochenschr 53, 1169–1170 (1975). https://doi.org/10.1007/BF01476458
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DOI: https://doi.org/10.1007/BF01476458