Definition
Fanconi-Bickel syndrome is a rare metabolic disease characterized by GLUT2 transporter defect, accompanied by hepatorenal glycogen storage and renal Fanconi syndrome.
Symptoms
- Hepatomegaly
- Renal Fanconi syndrome
- Growth retardation
- Rickets
Reasons
SLC2A2 gene mutation.
Diagnosis
Genetic testing, biochemical tests.
Treatment
Symptomatic treatment.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of dehydration, emergency services should be consulted.
This page is for general information purposes only.