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Enzymdefekte in Glykolyse und Nukleotidstoffwechsel roter Blutzellen bei nichtsphärocytären hämolytischen Anämien

Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia

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Summary

The detection of enzyme deficiencies in glycolytic and nucleotide metabolism of human red blood cells has enriched the pathophysiological knowledge on the origin of nonspherocytic hemolytic anemias (NSHA). So far for 11 of 13 glycolytic enzymes deficiencies have been described which are connected with alterations of biochemical enzymatic properties. The most frequent enzyme deficiencies are those of GPI and PK. By performance of special electrophoretic techniques genetic studies allow the demonstration of homozygote and double heterozygote defect carriers. Up to now only adenylate kinase and pyrimidine 5′ nucleotidase deficiencies have been detected as genetically determined in altered nucleotide metabolism. The metabolic alternations of several enzymopathies have been characterized so well, that the pathophysiological relations between enzyme deficiency and NSHA probably have been found to be a sufficient explanation.

Zusammenfassung

Der Nachweis von Enzymdefekten in der Glykolyse und im Nukleotidstoffwechsel der Erythrocyten hat die pathogenetischen Vorstellungen über die Entstehung nichtsphärocytärer hämolytischer Anämien (NSHA) wesentlich bereichert. Bisher wurden für 11 der 13 glykolytischen Enzyme Defekte beschrieben, die meistens mit einer Änderung auch der biochemischen Eigenschaften des Enzyms verbunden waren. Die häufigsten Defekte sind der Glukose-P-Isomerase (GPI)- und Pyruvatkinase-Mangel. Mit Hilfe spezieller elektrophoretischer Verfahren lassen sich heute auch genetische Untersuchungen durchführen, die eine Unterscheidung in homozygote und doppelt-heterozygote Defektträger erlaubt. Als Störungen im Nukleotidstoffwechsel der Blutzellen sind bisher nur der Adenylatkinase- und Pyrimidin 5′-Nukleotidase-Mangel bekannt geworden.

Für einen Teil der Enzymopathien konnten die Stoffwechselfolgen aufgeklärt und damit pathogenetische Zusammenhänge mit der NSHA wahrscheinlich gemacht werden.

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Waller, H.D., Benöhr, H.C. Enzymdefekte in Glykolyse und Nukleotidstoffwechsel roter Blutzellen bei nichtsphärocytären hämolytischen Anämien. Klin Wochenschr 54, 803–821 (1976). https://doi.org/10.1007/BF01469302

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