Fanconi Bickel Syndrome
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Fanconi Bickel Syndrome Overview

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Learn About Fanconi Bickel Syndrome

What is the definition of Fanconi Bickel Syndrome?
Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly). Fanconi Bickel syndrome is caused by genetic changes to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing.
What are the alternative names for Fanconi Bickel Syndrome?
  • Fanconi Bickel syndrome
  • Fanconi syndrome with intestinal malabsorption and galactose intolerance
  • GLUT2 deficiency
  • Glycogen storage disease XI
  • Glycogen storage disease due to GLUT2 deficiency
  • Glycogenosis Fanconi type
  • Hepatic glycogenosis with amino aciduria and glucosuria
  • Hepatorenal glycogenosis with renal Fanconi syndrome
  • Pseudo-Phlorizin diabetes
Who are the top Fanconi Bickel Syndrome Local Doctors?
Elite in Fanconi Bickel Syndrome
Elena N. Levtchenko
Elite in Fanconi Bickel Syndrome
Elena N. Levtchenko
Leuven, VLG, BE 

Elena Levtchenko practices practicing medicine in Leuven, Belgium. Ms. Levtchenko is rated as an Elite expert by MediFind in the treatment of Fanconi Bickel Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Cystinosis, Fanconi Bickel Syndrome, Fanconi Syndrome, Hypophosphatemia, and Kidney Transplant.

Elite in Fanconi Bickel Syndrome
Detlef Bockenhauer
Elite in Fanconi Bickel Syndrome
Detlef Bockenhauer
Great Ormond Street Hospital For Children NHS Foundation Trust And Department Of Renal Medicine, 
London, ENG, GB 

Detlef Bockenhauer practices practicing medicine in London, United Kingdom. Bockenhauer is rated as an Elite expert by MediFind in the treatment of Fanconi Bickel Syndrome. They are also highly rated in 40 other conditions, according to our data. Their clinical expertise encompasses Fanconi Syndrome, Fanconi Bickel Syndrome, Aminoaciduria, Osteotomy, and Lithotripsy.

 
 
 
 
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Elite in Fanconi Bickel Syndrome
Robert Kleta
Elite in Fanconi Bickel Syndrome
Robert Kleta
Rowland Hill Street, 
London, ENG, GB 

Robert Kleta practices practicing medicine in London, United Kingdom. Mr. Kleta is rated as an Elite expert by MediFind in the treatment of Fanconi Bickel Syndrome. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Aminoaciduria, Fanconi Syndrome, Fanconi Bickel Syndrome, and Renal Hypomagnesemia Type 2.

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What are the latest Fanconi Bickel Syndrome Clinical Trials?
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Enrollment Status: Recruiting
Publish Date: March 17, 2026

Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA.

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Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
Enrollment Status: Recruiting
Publish Date: March 10, 2026
Intervention Type: Device, Other

Summary: The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with Glycogen Storage Disease Types Ia, Ib and XI. To determine this, patient's will have a one-time planned admission to Connecticut Children's for approximately 8 hours and rece...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center