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Journal of Inherited Metabolic Disease

, Volume 28, Issue 4, pp 601–602 | Cite as

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene

  • S. Bekri
  • G. Armana
  • D. De Ricaud
  • M. Osenda
  • I. Maire
  • E. Van Obberghen
  • R. Froissart
Case Report

Summary

An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).

Keywords

Public Health Internal Medicine Metabolic Disease Early Diagnosis Molecular Analysis 
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.

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • S. Bekri
    • 1
    • 4
  • G. Armana
    • 1
  • D. De Ricaud
    • 2
  • M. Osenda
    • 1
  • I. Maire
    • 3
  • E. Van Obberghen
    • 1
  • R. Froissart
    • 3
  1. 1.Department of BiochemistryCentre Hospitalier Universitaire de NiceNice
  2. 2.Lenval FoundationNice
  3. 3.Pediatric Biochemistry DepartmentDebrousse HospitalLyonFrance
  4. 4.Department of BiochemistryCentre Hospitalier Universitaire de NiceNice cedex 1France

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