Fanconi Bickel syndrome is caused by mutations 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. Treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys.

SLC2A2 gene. This gene tells the body how to make a protein called glucose-transporter protein 2 (GLUT2). This protein is responsible for transporting glucose through different cells in the body. When GLUT2 is not working properly because of a mutation in SLC2A2, the body cannot transport glucose. Therefore, glucose builds up in the liver and kidneys. This glucose is stored as glycogen, and the buildup of glycogen in these body parts cause the symptoms of Fanconi Bickel syndrome.

SLC2A2 genes. We inherit one copy of each gene from our mother and the other from our father. A person with only one changed copy of SLC2A2 typically does not have symptoms and is known as a carrier. The children of any two carriers have a:

• 25% chance of being unaffected
• 50% chance of being a carrier like both parents
• 25% chance of having Fanconi Bickel syndrome.

SLC2A2 gene.

It is recommended that people with Fanconi Bickel syndrome follow a galactose-restricted diet. Galactose is a substance that is broken down into glucose. Because people with Fanconi Bickel syndrome have trouble moving glucose throughout the body, limiting galactose prevents the buildup of glucose and glycogen in the liver and kidneys. Galactose is found in food such as milk, cheese, yogurt, and legumes. People with Fanconi Bickel syndrome should primarily eat fructose as their main carbohydrate. In addition, people with Fanconi Bickel syndrome should eat small, frequent meals in order to avoid developing low blood sugar between meals. Finally, cornstarch may be used as a substitute to provide necessary sugars to the body.

Some of the symptoms of Fanconi Bickel syndrome such as rickets can have a large effect on people’s lives. However, with the proper treatment, some of the symptoms of Fanconi Bickel syndrome can resolve with age. People with this condition have been known to reach adulthood, and there have been reports that affected individuals can have children of their own.