A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance
Gut and Liver
; : 126-128, 2012.
Article
in En
| WPRIM
| ID: wpr-211728
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Fructose Intolerance
/
Frameshift Mutation
/
Liver Failure
/
Renal Insufficiency
/
Feeding Behavior
/
Enzyme Assays
/
Fructose
/
Fructose-Bisphosphate Aldolase
/
Fructosephosphates
/
Fruit
Type of study:
Diagnostic_studies
Limits:
Child
/
Humans
Language:
En
Journal:
Gut and Liver
Year:
2012
Type:
Article