Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly |
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| Authors: | Wössmann W Wiemann J Körber F Gortner L |
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| Institution: | Abt. Allgemeine P?diatrie und Neonatologie, Justus-Liebig-Universit?t, Giessen. wilhelm.woessmann@paediat.med.uni-giessen.de |
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| 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. |
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