Bickel Fanconi glycogenosis

Bickel Fanconi Glycogenosis (also known as Glycogen Storage Disease Type XI) is a rare metabolic disorder characterized by the body's inability to properly metabolize carbohydrates. This condition is a type of glycogen storage disease (GSD), which refers to a group of inherited metabolic disorders that affect the processing of glycogen, a form of sugar that is stored in the body's cells.

Etiology

Bickel Fanconi Glycogenosis is caused by mutations in the SLC2A2 gene, which provides instructions for making a protein that transports glucose (a simple sugar) into cells. This mutation disrupts the normal functioning of the protein, leading to an accumulation of glycogen in the body's cells.

Symptoms

The symptoms of Bickel Fanconi Glycogenosis typically appear in infancy or early childhood and may include failure to thrive, hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and Fanconi syndrome, a condition that affects the kidneys' ability to reabsorb certain substances into the bloodstream.

Diagnosis

Diagnosis of Bickel Fanconi Glycogenosis is typically made through a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests may reveal elevated levels of certain enzymes in the blood, while genetic testing can identify mutations in the SLC2A2 gene.

Treatment

There is currently no cure for Bickel Fanconi Glycogenosis. Treatment is symptomatic and supportive, and may include dietary management to maintain stable blood glucose levels, medications to manage symptoms, and regular monitoring of organ function.

Prognosis

The prognosis for individuals with Bickel Fanconi Glycogenosis varies. Some individuals may experience severe symptoms and complications, while others may have a milder disease course. Lifespan is typically normal, but quality of life can be significantly impacted by the disease.

See also

• Glycogen storage disease
• Fanconi syndrome
• Metabolic disorder
• SLC2A2

NIH genetic and rare disease info

• NIH info on Bickel Fanconi glycogenosis

Bickel Fanconi glycogenosis is a rare disease.

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