Talk:Abetalipoproteinemia
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I've deleted the §References as the OMIM link is now in the infobox. Claus Diff 14:20, 28 June 2006 (UTC)
Contents |
[edit] Draft revision
this article is organized along draft lines from the Clinical Medicine WikiProject
[edit] Introduction
Abetalipoproteinemia is a rare genetic disorder that interferes with the normal absorption of fat and fat soluble vitamins from food.
[edit] 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.
[edit] Diagnosis
The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul smelling stool is encountered. Low plasma chylomicron levels are also characteristic.
[edit] Pathophysiology
Two genes have been identified in which mutations are associated with this disorder: microsomal triglyceride transfer protein (MTT) and apolipoprotein B (ApoB).
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.
[edit] Treatment
Treatment with Vitamin E is recommended.
[edit] Prognosis
[edit] Prevention
[edit] Epidemiology
[edit] History
[edit] References
- Online Mendelian Inheritance in Man, OMIMTM. Johns Hopkins University, Baltimore, MD. MIM Number:200100:November 13, 1998:.
