Definition
Fructose-1,6-bisphosphatase deficiency is a metabolic disease characterized by impaired gluconeogenesis and accompanied by hypoglycemia and metabolic acidosis.
Symptoms
- Hypoglycemia
- Lactic acidosis
- Hyperventilation
- Hepatomegaly
Reasons
FBP1 gene mutation.
Diagnosis
Genetic testing, metabolic testing.
Treatment
Frequent feeding, fructose restriction.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic acidosis, emergency services should be consulted.
This page is for general information purposes only.