title: A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.
abstract: Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.
authors.affiliation: Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Hae-Won
authors.initials: HW
authors.lastname: Choi
authors.forename: Yeoun Joo
authors.initials: YJ
authors.lastname: Lee
authors.forename: Seak Hee
authors.initials: SH
authors.lastname: Oh
authors.forename: Kyung Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Ryu
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo