Version: 8.0.0
Date: Tue Jan 28 2025
hereditary fructose intolerance syndrome
DOID:9869
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hereditary fructose intolerance syndrome

Definition
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
Synonyms
  • Fructosaemia
  • Fructose-1,6-bisphosphate aldolase B deficiency
Cross References
Parent Terms
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None
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