/glycogen storage disease due to GLUT2 deficiency

glycogen storage disease due to GLUT2 deficiency

Rare Disease

MONDO:0009216

Also Known As

Bickel-Fanconi glycogenosisFBSFanconi Bickel syndromeFanconi syndrome with intestinal malabsorption and galactose intoleranceFanconi-Bickel diseaseFanconi-Bickel syndromeGSD due to GLUT2 deficiencyglycogen storage disease due to GLUT2 deficiencyglycogenosis due to GLUT2 deficiencyGLUT2 deficiencyGSD type 11GSD type XIglycogen storage disease 11glycogen storage disease XIglycogen storage disease type 11glycogen storage disease type XIglycogenosis Fanconi EXACTglycogenosis, Fanconi typehepatic glycogenosis with Fanconi nephropathyhepatic glycogenosis with amino aciduria and glucosuriahepatorenal glycogenosis with renal Fanconi syndromehepatorenal glycogenosis with renal fanconi syndromepseudo-phlorizin diabetes

Definition

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.