[Hereditary fructose intolerance].
The paper gives an overview of current diagnostic procedures in patients with clinical suspicion of hereditary fructose intolerance. On the basis of the literature and of a 9 years' experience at the Department of Paediatrics of the University of Graz a different approach according to the clinical condition of the patients is proposed (good clinical condition, severe liver disease, or bad clinical condition--i.e. liver biopsy is ethically not justified). The aim of this approach is to minimize invasive procedures for the children.
Goriup
U
U
Universitäts-Kinderklinik, Graz.
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005633:Fructose Intolerance / Q000175:diagnosis / Q000235:genetics*; D015318:Fructose Metabolism, Inborn Errors / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005808:Genes, Recessive; D006801:Humans; D008099:Liver / Q000201:enzymology
D005634:Fructose-Bisphosphate Aldolase
Hereditäre Fruktoseintoleranz.