Advertisement

Pädiatrie pp 402-404 | Cite as

Defekte des Purin- und Pyrimidinstoffwechsels

  • A. H. van Gennip

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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 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 55:863–906Google Scholar
  2. 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: 380–385PubMedGoogle Scholar
  3. 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 20:203–213PubMedCrossRefGoogle Scholar
  4. 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 46/4:445–452PubMedGoogle Scholar
  5. 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 2512–2702Google Scholar
  6. 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: 214–226PubMedCrossRefGoogle Scholar
  7. 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: 1916–1922PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • A. H. van Gennip

There are no affiliations available

Personalised recommendations