Zusammenfassung
Defekte des Purin- und Pyrimidinstoffwechsels sind charakterisiert durch abnorme Konzentrationen von Purinen, Pyrimidinen und ihren Metaboliten in Zellen und Körperflüssigkeiten. Ursache ist eine erhöhte oder erniedrigte Aktivitìt von Enzymen. Die Symptome treten in jedem Alter auf, sie sind sehr variabel.
Aus dem Englischen übersetzt von J. Schaub
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Literatur
Gennip AH van, Abeling NGGM, De Körte D (1990) Application of TLC and HPTLC for the detection of aberrant purine and pyrimidine metabolism in man. In: Sherma J, Fried B (eds) Handbook of Thin-Layer Chromatography. Marcel Dekker, New York. Chromatographic Science Series 55:863–906
Gennip AH van, Busch S, Elzinga L, Stroomer AEM, Cruchten van A, Schölten EG, Abeling NGGM (1993) Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39/3: 380–385
Gennip AH van, Abeling NGGM, Vreken P, Kuilenberg ABP van (1997b) Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects. J Inher Metab Dis 20:203–213
Ito T, Kuilenberg ABP van, Bootsma AH, Haasnoot AY, Cruchten A van, Wada Y and Gennip AH van (2000) Rapid screening of High-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tanden mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 46/4:445–452
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) (2001) The metabolic and molecular bases of inherited disease. Various authors: Part II, Chaps 106–113, Purines and pyrimidines, vol. II, 2th ed. McGraw-Hill, New York, pp 2512–2702
Simmonds HA, Duley JA, Fairbanks LD, McBride MB (1997) When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. J Inher Metab Dis 20: 214–226
Lenthe H van, Kuilenberg ABP van, Ito T, Bootsma AH, Cruchten A van, Wada Y, Gennip AH van (2000) Defeats in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips. Clin Chem 46/12: 1916–1922
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2003 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
van Gennip, A.H. (2003). Defekte des Purin- und Pyrimidinstoffwechsels. In: Lentze, M.J., Schulte, F.J., Schaub, J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-09176-0_46
Download citation
DOI: https://doi.org/10.1007/978-3-662-09176-0_46
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-09177-7
Online ISBN: 978-3-662-09176-0
eBook Packages: Springer Book Archive