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
Dans Anglais
| WPRIM
| ID: wpr-211728
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Intolérance au fructose
/
Mutation avec décalage du cadre de lecture
/
Défaillance hépatique
/
Insuffisance rénale
/
Comportement alimentaire
/
Dosages enzymatiques
/
Fructose
/
Fructose bisphosphate aldolase
/
Fructose phosphate
/
Fruit
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Humains
langue:
Anglais
Texte intégral:
Gut and Liver
Année:
2012
Type:
Article
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