Fanconi-Bickel Syndrome

What Is Fanconi-Bickel Syndrome?

Fanconi-Bickel syndrome (FBS) is a rare inherited disease. It is characterized by the accumulation of glycogen (a form of energy storage) in the liver and kidneys. According to Liver Directory, Fanconi-Bickel syndrome is an autosomal recessive disorder requiring one copy of the gene from each parent or 2 mutated copies total (homozygous) to be affected by the syndrome. There is not that much information available about this condition due to its rarity. It is thought to occur in less than 1 in one million births.

Causes & Risk Factors

The main cause of the Fanconi-Bickel syndrome is mutation in the SLC2A2 gene. Such mutation leads to disrupted glucose transportation and as a result to the buildup of glycogen in the liver and kidneys.

Signs & Symptoms

The first symptoms of this Fanconi-Bickel syndrome are usually recognized between 3 and 10 months of age although a case of FBS was first detected as early as during the neonatal period. The most common symptoms of Fanconi-Bickel syndrome are:

• Rickets (weakened bones)
• Hepatomegaly (abnormal enlargement of the liver)
• Swelling of the spleen
• Frequent urination
• Degeneration of tissue
• Stunted growth
• Late puberty
• Bowed legs
• Low blood sugar between meals

Diagnosis

Fanconi-Bickel syndrome can sometimes be detected at birth, later on there are various tests that can be carried out. A test that checks for galactose intolerance can sometimes help to diagnose along with a urine test that shows glycose, phosphates, amino acids, and bicarbonate levels in the body. A liver biopsy can also be carried out which will detect any issues with the liver and an X-ray can check bones for rickets.

Treatment

There is no way to fully cure Fanconi-Bickel syndrome. The treatment is usually targeted at treating the symptoms of the disease. Supplement treatments consisting of water, electrolytes, and vitamin D are used in combination with a galactose-restricted diet (a simple sugar found in milk and other dairy products containing lactose) to avoid the accumulation of glycose and glycogen in the body. Foods high in galactose are usually foods containing dairy such milk and milk products, cheese, some types of sauces, eggs, bread, pasta, yogurt, desserts, buttermilk, butter, sour cream, ice cream etc. A diet that is low in sugar and carbohydrates and small, frequent meals is recommended. Following these guidelines can minimize the symptoms of the disease improve the quality of life for the patient.

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Prevention

Unfortunately, it is impossible to prevent Fanconi-Bickel syndrome, since it is a genetic disease.

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Find out more about the basics of liver health with Dr. Tarek Hassanein, M.D.: