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Hyperargininämie mit Arginasedefekt Eine neue familiäre Stoffwechselstörung

II. Biochemische Untersuchungen

Hyperargininemia with arginase deficiency a new familial metabolic disease

II. biochemical studies

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Summary

This is a case report on familial hyperargininemia caused by an arginase deficiency which was observed in two sisters. The disease is accompanied by a secondary cystinuria and some less important variations in the concentration of various amino acids. In our opinion this syndrom is to be regarded as a new congenital metabolic disease.

Zusammenfassung

Es wird eine familiäre Hyperargininämie mit Arginasedefekt in den Erythrocyten bei zwei Schwestern beschrieben. Sie wird begleitet von einer sekundären Cystinurie und anderen weniger bedeutsamen Veränderungen in der Konzentration verschiedener Aminosäuren. Nach unserer Meinung handelt es sich dabei um eine neue Stoffwechselerkrankung.

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Literatur

  1. Peralta Serrano, A.: Argininuria, convulsiones y oligofrenia; un nuevo error innato del metabolismo? Rev. clin. esp. 97, 176 (1965).

    Google Scholar 

  2. Terheggen, H. G., A. Schwenk, A. Lowenthal, M. v. Sande u. J. P. Colombo: Hyperargininämie mit Arginasedefekt. Eine neue familiäre Stoffwechselstörung. I. Klinische Befunde. Z. Kinderheilk. 107, 298 (1970).

    Google Scholar 

  3. Adriaenssens, K., R. Vanheule, and M. v. Belle: A new simple screening method for detecting pathological aminoacidemias with collection of blood on paper. Clin. chim. Acta 15, 362 (1967).

    Google Scholar 

  4. Fauvert, R., et L. Hartmann: Techniques modernes de laboratoire, p. 157. L'Expansion, Paris 1962.

    Google Scholar 

  5. Colombo, J. P., W. Bürgi, R. Richterich, and E. Rossi: Congenital lysine intolerance with periodic ammonia intoxication. Metabolism 16, 910 (1967).

    Google Scholar 

  6. Frimpter, G. W.: Cystinuria: metabolism of the disulfide of cysteine and homocysteine. J. clin. Invest. 42, 1956 (1963).

    Google Scholar 

  7. Cabello, J., V. Prajoux, and M. Plaza: Immunodiffusion studies on human liver and erythrocyte arginases. Biochim. biophys. Acta (Amst.) 105, 583 (1965).

    Google Scholar 

  8. , C. Basilio, and V. Prajoux: Kinetic properties of erythrocyte — and liver arginase. Biochim. biophys. Acta (Amst.) 48, 148 (1961).

    Google Scholar 

  9. Visakorpi, J. K.: Citrullinuria. Lancet 1962 I, 1357.

  10. Mardens, Y., J. Dumon, F. Hayez, S. Vrydagh, A. Cools et G. Myle: Observation de deux paires de jumeaux monozygotiques atteints de phénylcétonurie. J. Génét. hum. 16, 42 (1967).

    Google Scholar 

  11. Adriaenssens, K., R. I. Allen, A. Lowenthal, Y. Mardens, and W. Tourtelotte: Brain and cerebral fluid free amino acids in phenylketonuria. Libris Jubilaris D. Klein. (Im Druck.)

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Authors and Affiliations

  1. Universitäts-Kinderklinik Köln, Köln, Deutschland

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

  2. Département de Neurochimie, Fondation Born-Bunge, Berchem-Antwerpen

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

  3. Chemisches Zentrallabor, Inselspital Bern, Bern, Schweiz

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

Authors
  1. H. G. Terheggen
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  2. A. Schwenk
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  3. A. Lowenthal
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  4. M. van Sande
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  5. J. P. Colombo
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Terheggen, H.G., Schwenk, A., Lowenthal, A. et al. Hyperargininämie mit Arginasedefekt Eine neue familiäre Stoffwechselstörung. Z. Kinder-Heilk. 107, 313–323 (1970). https://doi.org/10.1007/BF00438893

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  • DOI: https://doi.org/10.1007/BF00438893

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