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Abetalipoproteinemia


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This WisdomCard managed by: Tara Salamone


Abetalipoproteinemia, also called Bassen-Kornzweig syndrome, is a rare autosomal recessive genetic disorder in which the body is unable to fully absorb fat as well as fat-soluble vitamins from the intestines. Symptoms may include poor vision caused by vitamin A deficiency, decreased bone density, and calcium deposition due to lack of vitamin D; developmental delay and muscle weakness are also evident. Treatment focuses on the dietary requirements for fats and vitamins.

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