Article
Hereditary fructose intolerance and 
1 antitrypsin
deficiency
G Hillebranda, R Schneppenheimb, H D Oldigsc, R Santera
a Department of
Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, 24105 Kiel, Germany, b Department of Paediatric Oncology, University of
Hamburg, Martinistrasse 52, 20246 Hamburg, Germany, c Department of Paediatrics,
Municipal Hospital of Flensburg, Marienhölzungsweg 4, 24939 Flensburg, Germany
Correspondence to: Dr Hillebrand email: ghillebrand{at}pediatrics.uni-kiel.de
Accepted 1 March 2000
A patient with coexisting hereditary fructose intolerance (HFI)
and 
1 antitrypsin deficiency (1ATD) 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.
Keywords:
1 antitrypsin deficiency;
hereditary
fructose intolerance;
molecular genetics;
protease inhibitor typing
© 2000 by Archives of Disease in Childhood
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