Chylomicron retention disease: Difference between revisions
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==Overview== | ==Overview== | ||
Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease. Chylomicron retention disease is a very rare condition that is caused by a mutation in SAR1B | Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease.<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> 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 15:13, 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.[1] While the synthesis chylomicron is totally affected, VLDL synthesis is intact.
References
- ↑ 1.0 1.1 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.