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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 29-11-2019
Symbol ALDOB
Location 9q31.1
Name fructose intolerance, hereditary
Corresponding gene ALDOB
related resource Hereditary Fructose Intolerance/Aldolase
Main clinical features
  • characterized by vomiting, nausea, sweating associated with hypoglycemia and metabolic acidosis after exposure ef dietary fructose after weaning, leading to chronic toxicity and cirrhosis of liver in case of persistent intake
  • impaired function of liver aldolase (B isoform)
  • is a disease of carbohydrate metabolism that can result in hyperuricemia, hypoglycemia, liver and kidney failure, coma, and death (PMID: 21166391))
  • Genetic determination autosomal recessive
    Prevalence 1/26100
    Function/system disorder metabolism/carbohydrates
    Type disease