Chylomicron retention disease: Difference between revisions
Jump to navigation
Jump to search
Rim Halaby (talk | contribs) |
Rim Halaby (talk | contribs) No edit summary |
||
| Line 6: | Line 6: | ||
==Overview== | ==Overview== | ||
Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease.<ref name=" | Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease.<ref name="pmid13861205">{{cite journal| author=ANDERSON CM, TOWNLEY RR, JOHANSEN P| title=Unusual causes of steatorrhoea in infancy and childhood. | journal=Med J Aust | year= 1961 | volume= 48(2) | issue= | pages= 617-22 | pmid=13861205 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13861205 }} </ref> Chylomicron retention disease is a very rare condition that is caused by a mutation in SAR1B gene located on chromosome 5q31.1 leading to deficiency in the secretion of apolipoprotein B from enterocytes.<ref name="pmid12692552">{{cite journal| author=Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S et al.| title=Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. | journal=Nat Genet | year= 2003 | volume= 34 | issue= 1 | pages= 29-31 | pmid=12692552 | doi=10.1038/ng1145 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12692552 }} </ref> While the synthesis [[chylomicron]] is totally affected, VLDL synthesis is intact. | ||
==References== | ==References== | ||
Revision as of 15:14, 17 September 2013
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Rim Halaby, M.D. [2]
Synonyms and keywords: Anderson disease, lipid transport defect of intestine, hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
Overview
Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease.[1] Chylomicron retention disease is a very rare condition that is caused by a mutation in SAR1B gene located on chromosome 5q31.1 leading to deficiency in the secretion of apolipoprotein B from enterocytes.[2] While the synthesis chylomicron is totally affected, VLDL synthesis is intact.
References
- ↑ ANDERSON CM, TOWNLEY RR, JOHANSEN P (1961). "Unusual causes of steatorrhoea in infancy and childhood". Med J Aust. 48(2): 617–22. PMID 13861205.
- ↑ Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S; et al. (2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.