Abetalipoproteinemia Information

Abetalipoproteinemia (ABL) is a rare genetic disorder that interferes with the normal absorption of fat and fat soluble vitamins from food. Because of a genetic disorder, people with abetalipoproteinemia don't produce a critical "building block" (a special protein) for making lipoproteins. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). This disease is very rare. Less commonly, ABL may be referred to as Bassen-Kornzweig syndrome. Most people with ABL first develop chronic digestive problems, and then progress to neurological, muscular, skeletal, and ocular disease. Disorders of the blood may also be present. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides.

Abetalipoproteinemia is inherited as an autosomal recessive trait. The signs and symptoms of abetalipoproteinemia appear in the first few months of life. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which can lead to the nerve problems associated with this disorder. Boys seem to be affected more often than girls. Babies born with abetalipoproteinemia have stomach problems because the body can't digest fats properly. They have abnormal stools which are pale colored and foul-smelling. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement, and progressive degeneration of the light-sensitive layer (retina) at the back of the eye that can progress to near-blindness. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which can lead to the nerve problems associated with this disorder. Approximately one-third of all individuals with ABL develop mental retardation.

Causes of Abetalipoproteinemia

The common causes and risk factor's of Abetalipoproteinemia include the following:

• Mutations in one of two genes: apolipoprotein B or microsomal triglyceride transfer protein.

Symptoms of Abetalipoproteinemia

Some sign and symptoms related to Abetalipoproteinemia are as follows:

• Diarrhea.
• Poor muscle coordination.
• Difficulty with balance and movement (ataxia).
• Failure to gain weight.
• Vomiting.
• Babies born with abetalipoproteinemia have stomach problems because the body can't digest fats properly.
• Night blindness and poor eyesight.

Treatment of Abetalipoproteinemia

Here is list of the methods for treating Abetalipoproteinemia:

• Treatment with Vitamin E is recommended.
• Supplementation with a water-soluble form of vitamin A is also suggested.
• Meat is limited to no more than five ounces a day.
• Physical therapy may be used.
• Vitamin K therapy should be considered if blood clotting problems occur.