Abetalipoproteinemia
Definition
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.
Description
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...
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