Case Report : A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

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 i...

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Bibliographic Details
Published in:Gut and liver 2012-02, Vol.6 (1), p.126
Main Authors: Hae Won Choi, Yeoun Joo Lee, Seak Hee Oh, Kyung Mo Kim, Jeong Min Ryu, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
Format: Article
Language:Korean
Subjects:
Aldolase B
Fructose intolerance
Gene
Hepatitis
Hypoglycemia
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Summary: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 fi rst of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay. (Gut Liver 2012;6:126- 128)
ISSN:1976-2283