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Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
G Hillebrand1, R Schneppenheim, H D Oldigs
1Department of Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, 24105 Kiel, Germany. ghillebrand@pediatrics.uni-kiel.de
Archives of Disease in Childhood
|June 27, 2000
Abstract:
A patient with coexisting hereditary fructose intolerance (HFI) and alpha(1) antitrypsin deficiency (alpha(1)ATD) 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.