[Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly]. / Hereditäre Fruktoseintoleranz (HFI) als Ursache einer isolierten gamma GT-Erhöhung bei einem 5-jährigen Jungen mit Hepatomegalie.

ABSTRACT

The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose tolerance tests and liver biopsies often can be omitted.