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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05062 | Fructose-bisphosphate aldolase B |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002149 | Hyperuricemia |
| HP:0001510 | Growth delay |
| HP:0100626 | Chronic hepatic failure |
| HP:0001069 | Episodic hyperhidrosis |
| HP:0003270 | Abdominal distention |
| HP:0002018 | Nausea |
| HP:0000518 | Cataract |
| HP:0002918 | Hypermagnesemia |
| HP:0002013 | Vomiting |
| HP:0012545 | Reduced circulating aldolase concentration |
