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MIRAGE
fructose-1,6-bisphosphatase deficiency
Summary
- Synonym
-
- fructose 1 phosphate aldolase deficiency
- fructose-1,6-diphosphatase deficiency
- Definition
- A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
- Super Class
- carbohydrate metabolic disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09467 | Fructose-1,6-bisphosphatase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000737 | Irritability |
| HP:0000980 | Pallor |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001259 | Coma |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001397 | Hepatic steatosis |
| HP:0001649 | Tachycardia |
| HP:0001942 | Metabolic acidosis |
