Glycogen storage disease due to GLUT2 deficiency
MONDO:0009216Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.
Also known as: Bickel-Fanconi glycogenosis, FBS, Fanconi Bickel syndrome, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Fanconi-Bickel disease, Fanconi-Bickel syndrome, GSD due to GLUT2 deficiency, glycogen storage disease due to GLUT2 deficiency
2 clinical trials for this condition and its sub-types.
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Can home tests replace lab draws for rare disease patients?
Diagnosis Recruiting nowThis study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…
Sponsor: Connecticut Children's Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 13:01 UTC
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC