Guanidino Compounds in Hyperargininemia

  • B. Marescau
  • A. Lowenthal
  • H. G. Terheggen
  • E. Esmans
  • F. Alderweireldt
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)

Abstract

The patients studied are three sisters affected with hyperargininemia. The clinical and biochemical picture has been reported in full1–3. Like all patients affected with urea cycle diseases, the first clinical symptoms seen in a patient with hyperargininemia are irritability, coma and epilepsy. All the patients described either by us or in the literature are still alive. The age of our patients is 10, 13 and 17 years. The evolution of the hyperargininemic patient is characterized by neurological degradation, like spasticity.

Keywords

Unknown Peak Urea Cycle Disorder Argininic Acid Guanidino Compound Guanidinoacetic Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. Van Sande and J. P. Colombo. Hyperargininämie mit Arginasedefekt. Eine neue familiäre Stoffwechselstörung. I. Klinische Befunde, Z. Kinderheilk. 107: 298 (1970).PubMedCrossRefGoogle Scholar
  2. 2.
    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. Van Sande and J. P. Colombo, Hyperargininämie mit Arginasedefekt. Eine neue familiäre Stoffwechselstörung. II. Biochemische Untersuchungen, Z. Kinderheilk. 107: 313 (1970).PubMedCrossRefGoogle Scholar
  3. 3.
    H. G. Terheggen, A. Lowenthal, F. Lavinha and J. P. Colombo, Familial hyperargininemia, Arch. Dis. Child. 50: 57 (1975).PubMedCrossRefGoogle Scholar
  4. 4.
    B. Marescau, J. Pintens, A. Lowenthal, H. G. Terheggen and K. Adriaenssens, Arginase and free amino acids in hyperargininemia, J. Clin. Chem. Clin. Biochem. 17: 211 (1979).PubMedGoogle Scholar
  5. 5.
    M. L. Efron, Automation in analytical chemistry, in: “Technicon Symposia”, p.637, Mediad, New York {1965).Google Scholar
  6. 6.
    B. Marescau, A. Lowenthal, E. Esmans, Y. Luyten, F. Alderweireldt, and H. G. Terheggen, Isolation and identification of some guanidino compounds in urine of patients with hyperargininemia by liquid and thin-layer chromatography and gas chromatography - mass spectrometry, J. of Chromat. 224: 184 (1981).Google Scholar
  7. 7.
    B. Marescau, J. Pintens, A. Lowenthal, E. Esmans, Y. Luyten, G. Lemière, R. Domisse, F. Alderweireldt and H. G. Terheggen, Isolation and identification of 2-oxo-5-guanidinovaleric acid in urine of patients with hyperargininemia by chromatography and gas chromatography - mass spectrometry, J. Clin. Chem. Clin. Biochem. 19: 61 (1981).Google Scholar
  8. 8.
    H. Dubnoff and H. Borsook, A micromethod for the determination of glycocyamine in biological fluids and tissue extracts, J. Biol. Chem. 138: 381 (1941).Google Scholar
  9. 9.
    J. Pisano, D. Abraham and S. Udenfriend, Biosynthesis and disposition of y-guanidinobutyric acid in mammalian tissues, Arch. Biochem. Biophys. 100: 323 (1963).CrossRefGoogle Scholar
  10. 10.
    G. Perez, A. Rey and E. Schiff, The biosynthesis of guanidinosuccinic acid by perfused rat liver, J. Clin. Invest. 57: 807 (1976).PubMedCrossRefGoogle Scholar
  11. 11.
    B. D. Cohen, Guanidinosuccinic acid in uremia, Arch. Int. Med. 126: 846 (1970).CrossRefGoogle Scholar
  12. 12.
    S. Natelson and J. E. Sherwin, Proposed mechanism for urea nitrogen re-utilization: Relationship between urea and proposed guanidine cycles, Clin. Chem. 25: 1343 (1979).PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • B. Marescau
    • 1
  • A. Lowenthal
    • 1
  • H. G. Terheggen
    • 2
  • E. Esmans
    • 3
  • F. Alderweireldt
    • 3
  1. 1.Laboratory of NeurochemistryBorn-Bunge Foundation Universitaire Instelling AntwerpenWilrijkBelgium
  2. 2.Children’s HospitalNeussFederal Republic of Germany
  3. 3.Laboratory for Organic ChemistryRijksuniversitair Centrum AntwerpenAntwerpenBelgium

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