Term Name: hereditary fructose intolerance syndrome
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 )

Relationships
is a type of: carbohydrate metabolic disorder