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hereditary fructose intolerance syndrome
Summary
- Synonym
-
- 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.
- Super Class
- carbohydrate metabolic disorder
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000114 | Proximal tubulopathy |
| HP:0003149 | Hyperuricosuria |
| HP:0001508 | Failure to thrive |
| HP:0008273 | Transient aminoaciduria |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003076 | Glycosuria |
| HP:0003646 | Bicarbonaturia |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0005973 | Fructose intolerance |
