Abetalipoproteinemia

Bassen-Kornzweig Syndrome

Abetalipoproteinemia is a rare genetic disorder that interferes with the normal absorption of fat and fat soluble vitamins from food. Features This disorder leads to a multiple vitamin deficiency, affecting the fat soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular. Diagnosis The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinical ...