Hereditary fructose intolerance and alpha(1) antitrypsin deficiency.
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.
Hillebrand
G
G
Department of Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, 24105 Kiel, Germany. ghillebrand@pediatrics.uni-kiel.de
Schneppenheim
R
R
Oldigs
H D
HD
Santer
R
R
D005633:Fructose Intolerance / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics; D011480:Protease Inhibitors / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
D011480:Protease Inhibitors