A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.
- Author:
Hae Won CHOI
1
;
Yeoun Joo LEE
;
Seak Hee OH
;
Kyung Mo KIM
;
Jeong Min RYU
;
Beom Hee LEE
;
Gu Hwan KIM
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kmkim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Fructose intolerance;
Aldolase B;
Hepatitis;
Hypoglycemia;
Gene
- MeSH:
Child;
Enzyme Assays;
Food Habits;
Frameshift Mutation;
Fructose;
Fructose Intolerance;
Fructose-Bisphosphate Aldolase;
Fructosephosphates;
Fruit;
Hepatitis;
Hepatomegaly;
Homozygote;
Humans;
Hypoglycemia;
Jaundice;
Liver;
Liver Failure;
Renal Insufficiency
- From:Gut and Liver
2012;6(1):126-128
- CountryRepublic of Korea
- Language:English
-
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.
