[Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly].
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.
Abt. Allgemeine Pädiatrie und Neonatologie, Justus-Liebig-Universität, Giessen. wilhelm.woessmann@paediat.med.uni-giessen.de
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Wössmann
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Wiemann
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Körber
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Gortner
D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005633:Fructose Intolerance / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006580:Genetic Carrier Screening; D006529:Hepatomegaly / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D009154:Mutation; D005723:gamma-Glutamyltransferase / Q000097:blood*
D005723:gamma-Glutamyltransferase; D005634:Fructose-Bisphosphate Aldolase