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.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Intolerância à Frutose
/
Mutação da Fase de Leitura
/
Falência Hepática
/
Insuficiência Renal
/
Comportamento Alimentar
/
Ensaios Enzimáticos
/
Frutose
/
Frutose-Bifosfato Aldolase
/
Frutosefosfatos
/
Frutas
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Gut and Liver
Ano de publicação:
2012
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS