Summary
A short survey on the sphingolipid storage diseases is presented. The chemical nature of the accumulated substances is related to the genetically induced enzymic blocks in their biodegradation. Two disorders are stressed which alter the nervous system: metachromatic leukodystrophy and familiar infantile amaurotic idiocy (GM2-gangliosidosis). The difficulties in the causal interpretation of three variants of the latter disease due to the involvement of isoenzymes are dealt with. The relationship between the enzyme defect in these disorders and their time of clinical onset is discussed. Finally, the diagnostic possibilities are presented which are a prerequisite for preventing a further dissemination of these therapy-resistent inborn errors of metabolism.
Zusammenfassung
Es wird ein kurzer Überblick über die Sphingolipidspeicherkrankheiten gegeben. Die chemische Natur der gespeicherten Substanzen und die Ursache ihrer Speicherung durch einen genetisch bedingten Defekt im abbauenden Enzymsystem wird dargelegt. Der Schwerpunkt liegt auf zwei Sphingolipidosen, die das Nervensystem alterieren, der metachromatischen Leukodystrophie und familiären infantilen amaurotischen Idiotie (GM2-Gangliosidose). Die Komplikation in der Deutung der Ursache von 3 Varianten der GM2-Gangliosidose durch Isoenzyme wird behandelt. Die Beziehungen zwischen Enzymdefekt und Erkrankungsbeginn werden diskutiert und schließlich die Diagnosemöglichkeiten als Hilfsmittel zur Verhinderung der weiteren Verbreitung dieser therapieresistenten angeborenen Stoffwechselstörungen angegeben.
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Herrn Professor Dr. med. Gerd Peters zu seinem 70. Geburtstag gewidmet.
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Jatzkewitz, H., Sandhoff, K. Sphingolipidspeicherkrankheiten als Beispiel einer molekularen Neuropathologie. Arch. F. Psychiatr. U. Z. Neur. 221, 213–225 (1976). https://doi.org/10.1007/BF00418481
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DOI: https://doi.org/10.1007/BF00418481