hereditary fructose intolerance syndrome

Term ID

DOID:9869

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. (2)

References

• ICD10CM:E74.12
• ICD9CM:271.2
• MESH:D005633
• MIM:229600
• NCI:C84720
• SNOMEDCT_US_2023_03_01:20290005
• UMLS_CUI:C0016751

Ontology

Human Disease   ( DOID:9869 )