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An Abnormal Amino Acid Pattern in Adenosine Deaminase Deficiency

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Inherited Disorders of Vitamins and Cofactors

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Abstract

Heritable adenosine deaminase (ADA; EC 3.5.4.4) deficiency (McKusick 10270) results in purine nucleoside accumulation and subsequent lymphoid toxicity. ADA deficient patients show a severe combined immunodeficiency and several additional nonimmunological abnormalities. The improvement of the neurological abnormalities after enzyme replacement therapy suggests that they may be an integral part of the ADA deficiency syndrome (Hirschhorn et ai, 1980). Given the relationship between adenosine metabolism and sulfur amino acid metabolism, we have studied amino acid patterns in biological fluids of a patient with ADA deficiency and neurological symptoms. Preliminary results of this original study are reported.

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References

  • Hirschhorn, R., Papageorgiou, P. S., Kesarwala, H. and Taft, L. T. Amelioration of neurological abnormalities after “enzyme replacement” in adenosine deaminase deficiency. N. Engl J. Med. 303 (1980) 377

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Authors and Affiliations

  1. III Pediatria, Istituto “G. Gaslini”, Via 5 Maggio 39, 16148, Genova, Italy

    C. Borrone & M. Di Rocco

  2. Clinica Pediatrica II, Universita di Genova, Genova, Italy

    U. Caruso

  3. Cattedra di Genetica Umana, Ospedali “Galliera”, Genova, Italy

    S. Reali

Authors
  1. C. Borrone
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  2. M. Di Rocco
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  3. U. Caruso
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  4. S. Reali
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Editor information

G. M. Addison K. Bartlett R. A. Harkness R. J. Pollitt

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© 1985 SSIEM and MTP Press Limited

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Borrone, C., Di Rocco, M., Caruso, U., Reali, S. (1985). An Abnormal Amino Acid Pattern in Adenosine Deaminase Deficiency. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_31

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  • DOI: https://doi.org/10.1007/978-94-011-8019-1_31

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-8021-4

  • Online ISBN: 978-94-011-8019-1

  • eBook Packages: Springer Book Archive

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