Abetalipoproteinemia (Encyclopedia of Genetic Disorders)
Abetalipoproteinemia (ABL) is a rare inherited disorder characterized by difficulty in absorbing fat during digestion. The result is absence of betalipoproteins in the blood, abnormally shaped red blood cells, and deficiencies of vitamins A, E, and K. Symptoms include intestinal, neurological, muscular, skeletal, and ocular problems, along with anemia and prolonged bleeding in some cases.
An unusual sign first described in ABL is the presence of star-shaped red blood cells, which were dubbed "acanthocytes" (literally, thorny cells). Thus, ABL is also known by the name acanthocytosis. Less commonly, ABL may be referred to as Bassen-Kornzweig syndrome.
The underlying problem in ABL is a difficulty in absorbing fats (lipids) in the intestine. 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. Severe vitamin deficiency causes many of the symptoms in ABL. Treatments include restricting fat intake in the diet and vitamin supplementation. Even with early diagnosis and treatment, though, ABL is progressive and cannot be cured.
(The entire section is 1362 words.)
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