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)

Draft revision

this article is organized along draft lines from the Clinical Medicine WikiProject

Introduction

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 clinically diagnosed when foul smelling stool is encountered. Low plasma chylomicron levels are also characteristic.

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.

Treatment

Treatment with Vitamin E is recommended.

References

• Online Mendelian Inheritance in Man, OMIM^TM. Johns Hopkins University, Baltimore, MD. MIM Number:200100:November 13, 1998:.

WikiProject class rating

This article was automatically assessed because at least one WikiProject had rated the article as start, and the rating on other projects was brought up to start class. BetacommandBot 16:23, 10 November 2007 (UTC)