| Metadata | |
|---|---|
| ID | DOID:9869 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/20848650/, https://pubmed.ncbi.nlm.nih.gov/9610797/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:20290005 |
| Subsets |
NCIthesaurus |
| Synonyms |
Fructosaemia [EXACT] Fructose-1,6-bisphosphate aldolase B deficiency [EXACT] Fructosemia [EXACT] |
| Parent Relationships |