What causes Fanconi Bickel Syndrome?

Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare type of glycogen storage disease (GSD). It is caused by homozygous or compound heterozygous mutations within GLUT2, the gene encoding the most important facilitative glucose transporter in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells.

What is 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).

Is Fanconi syndrome hereditary?

Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed prior to age 10, while about 10% are diagnosed as adults.

What is von Gierke disease?

Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I).

What is Tarui disease?

Disease definition. Muscle phosphofructokinase (PFK) deficiency (Tarui’s disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

How long do you live with Fanconi anemia?

The average lifespan of FA patients is 20 to 30 years. However, advances in blood and stem cell transplantation have improved the chances of living longer with FA.

Is Fanconi syndrome fatal?

Kidney transplantation may be lifesaving if a child with the disorder develops kidney failure, but if cystinosis is the underlying disease, progressive damage may continue in other organs and eventually result in death.

Which drug causes Fanconi syndrome?

Common drugs that cause acquired Fanconi syndrome include aminoglycoside antibiotics, tetracycline antibiotics, chemotherapy agents (cisplatin, ifosfamide, carboplatin), antiviral drugs (tenofovir, adefovir), and anticonvulsant agents (valproic acid).

What causes PFK deficiency?

Phosphofructokinase deficiency is caused by a genetic defect in the phosphofructokinase enzyme, which affects the breakdown of glucose (sugar).

How is Tarui disease diagnosed?

Diagnosis is by muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest accumulation of glycogen. Patients may also display a hemolytic anemia. Treatment primarily consists of avoiding strenuous exercise. Some patients have been helped by a high protein diet.