Fanconi-Bickel syndrome

Fanconi Bickel syndrome is an autosomal recessive glycogen storage disease caused by mutations of the SLC2A2 gene. It is characterized by glycogen accumulation in both kidney and liver. The symptoms include renotubular dysfunction, failure to thrive, and hepatospenomegaly.

Historical Aspects

The syndrome was first described by Fanconi and Bickel in 1949.[Error: Macro 'ref' doesn't exist]

Systematic

Metabolic disturbances of proximal tubular function
	Cystinosis
	Dent disease
	Fanconi renotubular syndrome
	Fanconi-Bickel syndrome
		SLC2A2
	Fructose intolerance
	Galactosemia
	Glycogen storage disease 1
	Hepatorenal tyrosinemia
	Lowe disease
	MELAS syndrome
	Wilson disease