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Progressive Hypotonia with Lymphopenia

  • Mihaela Tatiana Bataneant
  • Patricia Urtila
Chapter

Abstract

  • T cell lymphopenia, and neurologic findings with fluctuation and deterioration over time should raise the suspicion of purine nucleoside phosphorylase (PNP) deficiency

  • Very low serum uric acid level is in favor of PNP deficiency but a normal level does not exclude PNP deficiency

  • The diagnosis is established by measurement of PNP enzyme activity in red cells or blood mononuclear cells. Elevated serum or urinary levels of inosine and guanosine is also confirmatory

  • The only available cure for PNP deficiency is HSCT

Keywords

Purine nucleoside phosphorylase Lymphopenia Serum uric acid 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Mihaela Tatiana Bataneant
    • 1
    • 2
  • Patricia Urtila
    • 1
    • 2
  1. 1.University of Medicine and Pharmacy “Victor Babes” TimisoaraTimisoaraRomania
  2. 2.“Louis Turcanu” Children’s Emergency Clinical HospitalTimisoaraRomania

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