Fanconi-Bickel Syndrome – Causes, Symptoms & Treatment


Fanconi-Bickel syndrome is a condition in which glycogen storage is impaired. The disease is very rare and is synonymously referred to as glycogenosis type XI or Bickel-Fanconi glycogenosis. The disease is based on a defect in the ‘GLUT-2’ gene.

What is Fanconi-Bickel Syndrome?

In the context of Fanconi-Bickel syndrome, glycogen storage in the kidneys and liver is disturbed. In addition, the affected patients suffer from a pronounced renal tubulopathy and disorders of the metabolism of galactose and glucose. Exact statements on the frequency of Fanconi-Bickel syndrome are not yet possible. However, no more than 200 cases of illness are currently known.

As a rule, the first symptoms of the disease appear in infants in the first few months after birth. The disease usually manifests itself in symptoms such as rickets and polyuria . The proximal tubule is also affected by the disorders. Fanconi-Bickel syndrome is named after the doctors Fanconi and Bickel, who first described the disease in 1949.


The Fanconi-Bickel syndrome is based on a genetic defect , so that it is a hereditary disease. According to previous study results, it is an autosomal recessive disease.

The exact prevalence has not yet been researched, but the Fanconi-Bickel syndrome is a very rare disease. Gene mutations in the so-called GLUT-2 gene are the cause of the development of the disease. This leads to genetic mutations of heterozygous and homozygous types.

Symptoms, Ailments & Signs

In Fanconi-Bickel syndrome, the substance glycogen accumulates in the affected patient’s liver. In addition, there is a so-called hepatomegaly , a pathological enlargement of the liver and kidneys, with the functionality of the kidneys being severely impaired. In addition, the galactose and glucose balance are disturbed.

Some typical symptoms of the disease are already evident in newborns and infants. So, for example, rickets develops, which is associated with the disruption of kidney function . As the Fanconi-Bickel syndrome progresses, patients suffer from symptoms such as short stature and what is known as renal osteopathy .

In this context, hepatosplenomegaly and osteoporosis also occur. In young children, the disease often presents initially with a bulging abdomen resulting from hepatosplenomegaly. The pubertal phase occurs later in the sick than in healthy adolescents.

In addition, the patients usually have osteopenia and already suffer from broken bones as children. The severity of osteoporosis increases with age. In some of the affected people, the body fat is abnormally distributed.


When diagnosing Fanconi-Bickel syndrome, the treating physician considers both the obvious symptoms of the disease and the results of various laboratory tests performed on the patient. If babies suffer from typical symptoms a few months after birth, appropriate medical examinations are usually ordered quickly.

In view of the low frequency of the disease, however, suspicion rarely falls immediately on Fanconi-Bickel syndrome. The caregivers of the sick child are primarily involved in the necessary anamnesis of the patient. Through them, the doctor receives information about the symptoms of the disease. In addition, with the help of the patient’s parents, the specialist is able to take a family history, which is important for diagnosing the hereditary disease.

After the patient consultation, various examination procedures are the first priority, with which the doctor tries to approach the disease at hand. For example, he uses X-ray examinations , which usually show evidence of rickets. Blood tests and urine samples from the patient with corresponding laboratory evaluations also play an essential role .

People with Fanconi-Bickel syndrome show proteinuria , phosphaturia, glucosuria and hypophosphatemia . There is also hyperuricemia associated with aminoaciduria . Biopsies with subsequent histological analysis of the tissue samples are also possible.

Doctors usually detect liver steatosis and storage of glycogen in the liver and kidneys, more precisely in the area of ​​the proximal tubular cells and the hepatocytes. Ultimately, the Fanconi-Bickel syndrome can be reliably detected with the help of genetic tests.

The gene mutations on the responsible genes are identified. Prenatal diagnosis of the disease is also practicable in families with preexisting conditions. In the differential diagnosis, the doctor excludes the so-called glycogen storage disease type IA, which is also known as Von Gierke disease .


In most cases, Fanconi-Bickel syndrome causes an enlarged liver and kidney dysfunction. Likewise, most of those affected suffer from short stature. Short stature can lead to difficulties, especially in children, because they are teased because of it.

This often leads to depression and other psychological limitations. The risk of fractures is greatly increased by the Fanconi-Bickel syndrome, making it easier for the patient to sustain injuries. In some cases, patients also suffer from an abnormal distribution of body fat.

This can also lead to reduced self-esteem and a reduced quality of life. Targeted treatment of Fanconi-Bickel syndrome is not possible. It is therefore only possible to treat the symptoms and reduce them to a minimum. The addition of electrolytes strengthens the kidneys. The patient must be on a galactose-free diet and consume enough fructose.

In general, a healthy lifestyle also has a positive effect on Fanconi-Bickel syndrome. In some cases, life expectancy is reduced when renal dysfunction is severe. Pain can be treated with pain therapies, but long-term use of painkillers should be avoided.

When should you go to the doctor?

Since Fanconi-Bickel syndrome does not heal itself or improve the symptoms, the disease must always be examined by a doctor and also treated. In this way, further complications can be avoided.

The doctor should be consulted if the person concerned suffers from a significantly enlarged liver. This is noticeable, among other things, by pain in this area of ​​the body. Furthermore, the kidney function can also be disturbed, but this can only be examined with a blood test.

Furthermore, a visit to a doctor is necessary if the person concerned suffers from short stature. Increased fractures or complaints when the bones grow together can also indicate Fanconi-Bickel syndrome and should be examined by a doctor. The disease can usually be diagnosed by a pediatrician or a general practitioner.

The symptoms are then usually treated with the help of medication and can limit them. Since the Fanconi-Bickel syndrome can also lead to psychological problems, these should be looked after by a psychologist or a therapist. The syndrome itself usually does not reduce the patient’s life expectancy.

Treatment & Therapy

So far, no effective options for a causal treatment of the Fanconi-Bickel syndrome are available. Instead, the patients’ complaints are treated as well as possible. The impairment of kidney function is treated with an additional dose of electrolytes and water. The patients also receive phosphate and vitamin D.

Ideally, the sick people stick to a low-galactose diet . The intake of sufficient fructose plays an important role here, as this substance provides the required carbohydrates. The course and prognosis of Fanconi-Bickel syndrome have not yet been adequately researched. However, it has been shown that renal tubulopathy is still present in adult patients. However, it rarely results in kidney failure.

Outlook & Forecast

Fanconi-Bickel syndrome is usually not life-threatening. If glycogen storage disease is detected early and treated by a specialist, serious complications can be averted. In individual cases, however, the symptoms can develop into renal insufficiency , which is associated with further complications and is potentially life-threatening.

The Fanconic-Bickel syndrome also causes severe deficiency symptoms, which mean a long-term burden on the body. Nevertheless, the prognosis is basically positive. Patients who seek medical attention at the onset of symptoms and follow the doctor’s diet and medication regimens recover within a few months. Long-term consequences are not to be expected with Fanconi-Bickel syndrome, provided the necessary treatment measures have been taken. Life expectancy is not reduced by the disease.

Well-being is reduced during the acute phase of the disease and also during therapy, with the extent of the limitations depending on the symptom profile, the patient’s age and other factors that must be taken into account by the doctor when making the prognosis. The drug treatment of vitamin D and phosphate can occasionally lead to side effects and interactions that can worsen the prospect of a speedy recovery.


The Fanconi-Bickel syndrome as a genetically triggered disease cannot be prevented.


Those affected with Fanconi-Bickel syndrome usually do not have any special aftercare options. The patient is primarily dependent on early diagnosis and treatment, since serious complications can otherwise occur. Since the Fanconi-Bickel syndrome can only be treated purely symptomatically and not causally, genetic counseling makes sense if you want to have children in order to possibly prevent the syndrome from being passed on to the children.

The syndrome is usually treated with medication. Those affected must also ensure a high intake of fluids in order not to damage the kidneys. The internal organs should be checked regularly by a doctor in order to identify and treat damage at an early stage. A special diet is also necessary, which must be followed by those affected.

Especially with children, parents should pay attention to this diet. If the kidneys are weak, a transplant or dialysis may be necessary, which is why the life expectancy of the person affected by Fanconi-Bickel syndrome can be reduced. Furthermore, care by one’s own family and friends is often helpful and has a positive effect on the course of the disease.

You can do that yourself

In the case of Fanconi-Bickel syndrome, those affected have very few options for self-help. The syndrome itself cannot be prevented, so that usually only symptomatic treatment by a doctor can take place.

Those affected are dependent on a low-galactose diet in their everyday life in order to alleviate the symptoms of the syndrome. Fruits and vegetables in particular can have a positive effect on the course of the disease, as they are rich in fructose. Furthermore, a healthy lifestyle generally has a very positive effect on the disease. Since those affected can also suffer from weakened kidney function due to Fanconi-Bickel syndrome, electrolytes should be added to the water regularly.

Various dietary supplements, such as vitamin D or phosphate , can also have a positive effect on the course of the syndrome. Long-term use of these supplements should only take place after consulting a doctor. Long-term use of painkillers should always be discussed with a doctor.

Furthermore, those affected are dependent on regular examinations of the kidneys and other internal organs in order to detect symptoms and complications at an early stage.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.