title: Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
abstract: We describe a patient with Fanconi-Bickel syndrome diagnosed by clinical manifestations and the identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed with neonatal diabetes mellitus due to hyperglycaemia and glycosuria at 3 days of life. In addition, newborn screening for galactosaemia revealed hypergalactosaemia. Thereafter, she was managed with lactose-free milk and insulin therapy. However, she failed to grow and her liver became progressively enlarged. Her liver function deteriorated with increased prothrombin time. A liver biopsy done at age 9 months showed micronodular cirrhosis with marked fatty changes and she succumbed to hepatic failure with pneumonia at 10 months of age. DNA sequencing analysis of the GLUT 2 gene using her genomic DNA revealed a novel mutation in codon 5, lysine5 stop(K5X).
authors.affiliation: Department of Paediatrics, Asan Medical College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Young-Lim
authors.initials: YL
authors.lastname: Shin
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
mesh_terms: D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics* / Q000628:therapy; D005198:Fanconi Syndrome / Q000235:genetics* / Q000503:physiopathology; D005690:Galactose / Q000097:blood; D005786:Gene Expression Regulation; D051273:Glucose Transporter Type 2; D006008:Glycogen Storage Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000503:physiopathology; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D005690:Galactose