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.