|
Abetalipoproteinemia is a rare genetic disorder of fat metabolism that results in poor absorption of dietary fat and vitamin E. There is an absence of betalipoprotein B. On intestinal biopsy, vacoules containing lipid enterocytes are seen. Since, there is no or little assimilation of chylomicrons, their levels in plasma remains low.
The vitamin E deficiency associated with this disease causes problems such as poor transmission of nerve impulses, muscle weakness, and degeneration of the retina that can cause blindness. Individuals with abetalipoproteinemia may be prescribed special vitamin E supplements by a physician to treat this disorder.
|
