Article Text
PDFArticle
Hereditary fructose intolerance and α1 antitrypsin deficiency
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