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β-Alanin-Vermehrung in Lympho- und Thrombocyten zur biochemischen Diagnose der Cystinose

Biochemical diagnosis of cystinosis by an increased β-alanine content in lymphocytes and thrombocytes

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Summary

In 6 patients with cystinosis, the cystine concentration in lymphocytes was 2.5 nMol/mg protein, while only traces of cystine were found in the platelets.

A previously undescribed elevation of another amino acid was observed which was identified asβ-alanine by column chromatography in this laboratory. In 6 patients with cystinosis, this amino acid reached a concentration of 4.5 nMol/mg protein and of 7.5 nMol/mg protein in the platelets of 5 patients with cystinosis. The assessment of theβ-alanine concentrations in lymphocytes and platelets is suitable for biochemical diagnosis of cystinosis. Ultra-micromethods must of course be used.β-alanine concentrations in heterozygotes were not different from the norm.

The cause of the increase inβ-alanine concentrations in lymphocytes and platelets could not yet be explained.

Zusammenfassung

In den Lymphocyten von 6 Cystinose-Kranken konnte Cystin in einer Menge von 2,5 nMol/mg Protein nachgewiesen werden, während es in den Thrombocyten nur in Spuren gefunden wurde.

Eine bisher nicht beschriebene Erhöhung wurde für eine andere Aminosäure gefunden, die wir säulenchromatographisch alsβ-Alanin identifiziert haben. Diese erreichte in Lymphocyten von 6 Cystinosen 4,5 nMol/mg Protein, in Thrombocyten 7,5 nNol/mg Protein.

Die Bestimmung derβ-Alanin-Konzentration in Lymphocyten und Thrombocyten ist geeignet, für die biochemische Diagnose der Cystinose angewendet zu werden. Voraussetzung ist die Heranziehung einer Ultramikromethode. Heterozygote zeigten in denβ-Alanin-Konzentrationen keine Abweichungen von der Norm. Die Ursache derβ-Alanin-Erhöhung in Lymphocyten und Thrombocyten ist noch nicht geklärt.

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Authors and Affiliations

  1. Universitäts-Kinderklinik Marburg, Germany

    G. Wenske & F. Linneweh

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  1. G. Wenske
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  2. F. Linneweh
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Wenske, G., Linneweh, F. β-Alanin-Vermehrung in Lympho- und Thrombocyten zur biochemischen Diagnose der Cystinose. Klin Wochenschr 50, 1082–1084 (1972). https://doi.org/10.1007/BF01486851

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  • DOI: https://doi.org/10.1007/BF01486851

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