Fanconi-Bickel syndrome

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Fanconi-Bickel syndrome

Synonyms: GSD due to GLUT2 deficiency | Glycogen storage disease due to GLUT2 deficiency | Glycogenosis due to GLUT2 deficiency

A rare glycogen storage disease due to a deficiency in solute carrier family 2 facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Fanconi-Bickel syndrome?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

Clinical Trials

For a list of clinical trials in this disease area, please click here.