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Hereditary fructose intolerance and α1 antitrypsin deficiency
  1. G Hillebranda,
  2. R Schneppenheimb,
  3. H D Oldigsc,
  4. R Santera
  1. aDepartment of Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, 24105 Kiel, Germany, bDepartment of Paediatric Oncology, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany, cDepartment of Paediatrics, Municipal Hospital of Flensburg, Marienhölzungsweg 4, 24939 Flensburg, Germany
  1. Dr Hillebrand email: ghillebrand{at}pediatrics.uni-kiel.de

Abstract

A patient with coexisting hereditary fructose intolerance (HFI) and α1 antitrypsin deficiency (α1ATD) is described. Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. The case underlines the diagnostic role of molecular genetic techniques in inborn errors of metabolism.

  • α1 antitrypsin deficiency
  • hereditary fructose intolerance
  • molecular genetics
  • protease inhibitor typing

https://doi.org/10.1136/adc.83.1.72

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      Archives of Disease in Childhood 2000; 83 0-0 Published Online First: 01 Jul 2000. doi: 10.1136/adc.83.1.0