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Definition

Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

Acronym

FBS

Synonyms

Fanconi syndrome with intestinal malabsorption and galactose intolerance
Glycogenosis Fanconi type
Glycogen storage disease XI
Hepatic glycogenosis with amino aciduria and glucosuria
Hepatic glycogenosis with Fanconi nephropathy
Hepatorenal glycogenosis with renal Fanconi syndrome
Pseudo-phlorizin diabetes

 
Disclaimer

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