Fructose-1,6-bisphosphatase deficiency
ORPHA:348· ICD-10 E74.1
Definition
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages