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?
Overview. 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).
How do you get Pompe disease?
Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease.
What is a glycogen storage disease?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose.
How long do you live with Fanconi anemia?
Because the extent of Fanconi anemia varies, the average lifespan for people with the disorder is between 20 and 30 years old. But some patients live into their 30s, 40s and 50s. About 80 percent of people who have Fanconi anemia live to age 18 or older.
How is Fanconi diagnosed?
The diagnosis of Fanconi syndrome is made based on tests that document the excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations.
How is von Gierke’s disease diagnosed?
Definitive diagnosis of Von Gierke Disease is by liver biopsy (examination of liver tissue), and assay of enzyme (glucose-6-phosphatase) activity. Gene testing, a recently available test that can detect mutations, provides a non-invasive technique for definitive diagnosis.
What is Pompe disease?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Is Pompe always fatal?
Patients with either type of infantile-onset Pompe disease may have their lives prolonged with early detection and treatment. However, both of these types of Pompe disease often are fatal. Patients with classic infantile-onset type rarely live past 1 year of age.