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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:0002094 | Dyspnea |
| HP:0006582 | Reye syndrome-like episodes |
| HP:0001397 | Hepatic steatosis |
| HP:0003128 | Lactic acidosis |
| HP:0001250 | Seizure |
| HP:0002240 | Hepatomegaly |
| HP:0004372 | Reduced consciousness |
| HP:0001946 | Ketosis |
| HP:0000980 | Pallor |
| HP:0002119 | Ventriculomegaly |
