Abetalipoproteinemia : Articles
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Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
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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.
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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.
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Bassen-Kornzweig syndrome is a rare genetic disorder that is characterized by an inability to properly absorb dietary fats, resulting in neurological abnormalities, degeneration of the retina of the eye, a typical red blood cell abnormality ( " burr-cell " malformation), and failure to thrive (grow and gain weight) during infancy. Bassen-Kornzweig syndrome is inherited as an autosomal recessive disorder, which means that parents of affected individuals are themselves unaffected carriers, and that they have a 25% risk of having an affected child in each pregnancy.
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