Fanconi-Bickel syndrome

Epidemiology

rare

Pathology

• hepatorenal glycogen accumulation
• proximal renal tubular dysfunction
• impaired utilization of glucose & galactose

Genetics

• autosomal recessive
• associated with defects in SLC2A2

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Fanconi renotubular syndrome

Database

• OMIM: https://mirror.omim.org/entry/227810