hereditary fructose intolerance syndrome (DOID:9869)
Alliance: disease page
Synonyms: Fructosaemia; Fructose-1,6-bisphosphate aldolase B deficiency; Fructosemia
Alt IDs: OMIM:229600, ICD10CM:E74.12, ICD9CM:271.2, MESH:D005633, NCI:C84720, UMLS_CUI:C0016751
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.