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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0002148 | Hypophosphatemia |
| HP:0000952 | Jaundice |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0002014 | Diarrhea |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0001394 | Cirrhosis |
| HP:0003109 | Hyperphosphaturia |
| HP:0001249 | Intellectual disability |
| HP:0004395 | Malnutrition |
| HP:0001943 | Hypoglycemia |
