Abstract
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in
the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy
and impaired utilization of glucose and galactose. In this communication, we present
the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly.
Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation
of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel
syndrome phenotype suggest additional underlying mechanisms that need exploration.
Keywords
Fanconi-Bickel syndrome - hypophosphatemic rickets - glycogen storage disease type
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