Talk:Abetalipoproteinemia

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WikiProject Medicine / Medical genetics (Rated Start-class, Low-importance)
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I[edit]

I've deleted the §References as the OMIM link is now in the infobox. Claus Diff 14:20, 28 June 2006 (UTC)[reply]


Draft revision[edit]

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 [[Retinol|vitamin A]], [[vitamin D]], [[Tocopherol|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 [[chylomicron]]s, their levels in [[plasma]] remains low. ==Treatment== Treatment with Vitamin E is recommended. ==Prognosis== ==Prevention== ==Epidemiology== ==History== ==References== * [http://www.ncbi.nlm.nih.gov/omim/ Online Mendelian Inheritance in Man], OMIM<sup>TM</sup>. Johns Hopkins University, Baltimore, MD. MIM Number:[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200100 200100]:November 13, 1998:.

WikiProject class rating[edit]

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)[reply]

External links modified[edit]

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nomentionofELCTROFORESIS??[edit]

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

Support Group[edit]

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)[reply]