Term Name: | hereditary fructose intolerance syndrome |
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Synonyms: | Fructosaemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosemia |
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. |
Ontology: | Human Disease [DOID:9869] ( DOID:9869 ) |