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Fanconi-Bickel Syndrome

Fanconi-Bickel Syndrome is an extremely rare form of liver disease. Fanconi-Bickel Syndrome affects the liver and kidneys and is commonly known as a glycogen storage disease. This is a very dangerous form of liver disease. Signs and symptoms of Fanconi-Bickel Syndrome start appearing just a few months after birth. There is no immediate cure for Fanconi-Bickel Syndrome but eating a strict diet and making certain lifestyle changes can make a big difference. Here is what you need to know about Fanconi-Bickel Syndrome.

What Is Fanconi-Bickel Syndrome? Causes & Risk Factors Signs & Symptoms Diagnosis Treatment Prevention The Importance of a Liver-Healthy Diet Amsety Bars for Liver Health

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.

The Importance of a Liver-Healthy Diet

Eating a healthy diet is the best way to combat the threat of liver disease. The food we eat has a huge impact on liver health. Regularly eating food with low nutritional quality severely damages the liver, while a healthy diet plays a huge role in liver disease treatment supporting the liver´s regeneration ability and in some cases even preventing further liver damage.

Generally, a liver-healthy diet is low in sugar, salt, gluten, starch, fat, and dairy and contains an adequate amount of vitamins & minerals, lean proteins, complex carbs, and fiber.

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Would you like to know whether you are leading a liver-healthy lifestyle? Take the Liver Health Score to find out! The liver health experts at Amsety have developed the Liver Health Score to help you identify the habits that are keeping you from meeting your liver-health goals.

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Amsety Bars for Liver Health

Amsety Bars are the first nutrition bars in the U.S. developed specifically to support liver health and meet the dietary requirements of a liver-healthy diet Amsety Bars include the Super 16 Vitamin & Mineral Mix® of essential vitamins and minerals that liver patients are most likely to develop deficiencies of.

Amsety Bars are also very low in sodium, organic, gluten-free, dairy-free, contain no refined sugar, GMO, colors or preservatives. The Amsety Bar is a liver-healthy meal that fits right in your pocket as a delicious meal replacement or snack on-the-go.

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


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