ORPHA:348
Fructose-1,6-bisphosphatase deficiency
Also called FBPase deficiency, Fructose-1,6-diphosphatase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 1 000 000 (Italy)
- Rarity class
- 1-9 / 1 000 000
ORPHA:348 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Metabolic acidosis
- Hypoglycemia
- Lactic acidosis
- Abnormal enzyme/coenzyme activity
- Vomiting
- Diarrhea