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Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease

Summary

Enzyme kinetic studies on tissue extract from a newborn child who had died from the classic type of maple syrup urine disease (MSUD) revealed an altered decarboxylase moiety of the branched chain ketoacid oxidase multienzyme complex. Of two kinetically different decarboxylase components present in normal human controls the one with higher affinity for the substrate α-ketoisovalerate was absent in our patient.

Zusammenfassung

Es wurden enzymkinetische Untersuchungen des verzweigtkettigen α-Ketosäureoxidase-Komplexes in angereicherten Gewebeextrakten eines neugeborenen Kindes beschrieben, das an sogenannter klassischer Ahornsirupkrankheit gestorben ist. Während in normalen Kontrollen zwei kinetisch unterscheidbare Komponenten mit unterschiedlicher Substrataffinität nachweisbar sind, wurde im Gewebe des Patienten nur die Komponente mit geringerer Affinität zur α-Ketoisovaleriansäure gefunden. Dieses Ergebnis deutet darauf hin, daß bei der klassischen Ahornsirupkrankheit das Teilenzym Decarboxylase im Multienzymkomplex der verzweigtkettigen Ketosäureoxidase defekt ist.

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This work was supported in part by grants of the Deutsche Forschungsgemeinschaft and the Stiftung Volkswagenwerk.

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Rüdiger, H.W., Langenbeck, U., Schulze-Schencking, M. et al. Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease. Hum Genet 14, 257–263 (1972). https://doi.org/10.1007/BF00290167

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Kinetic Study
  • Tissue Extract
  • Classic Type