Talk:Abetalipoproteinemia

I
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.

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)

External links modified
Hello fellow Wikipedians,

I have just modified 1 one external link on Abetalipoproteinemia. Please take a moment to review my edit. If you have any questions, or need the bot to ignore the links, or the page altogether, please visit this simple FaQ for additional information. I made the following changes:
 * Added archive https://web.archive.org/web/20080201000748/http://health.allrefer.com:80/health/bassen-kornzweig-syndrome-info.html to http://health.allrefer.com/health/bassen-kornzweig-syndrome-info.html

When you have finished reviewing my changes, please set the checked parameter below to true or failed to let others know (documentation at ).

Cheers.— InternetArchiveBot  (Report bug) 17:42, 2 October 2016 (UTC)

nomentionofELCTROFORESIS??
iguesNAMEcomzfr.dad(noBETApeak>etym-sctn(i'dntfindaSOURS4now..81.11.206.31 (talk) 06:35, 17 October 2016 (UTC)

Support Group
Der editors of Wikipedia. Would it be possible to have a link to the Facebook support group for Abetalipoproteinemia. This is a rare disease, and it is very difficult to handle for parents and medical staff, so the support group can be important in helping, and therefore I believe it would be a good idea to have the support group linked somehow.

If it is possible to have this group linked, here is the link: https://www.facebook.com/groups/Abetalipoproteinemia/ This is the main international support group for the disease. I'm sorry the Wikipedia system is confusing for me, so I'm not sure if it can be done?

Regards 185.85.44.129 (talk) 12:32, 31 May 2017 (UTC)