|
|
| (One intermediate revision by one other user not shown) |
| Line 1: |
Line 1: |
| __NOTOC__
| | #REDIRECT[[Hypobetalipoproteinemia]] |
| {{SI}}
| |
| {{CMG}}; {{AE}} {{Rim}}
| |
| | |
| {{SK}} Anderson disease, CMRD, hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells, lipid transport defect of intestine
| |
| | |
| ==Overview==
| |
| 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==
| |
| {{Reflist|2}}
| |
| | |
| {{lipopedia}}
| |
| | |
| [[Category:Lipopedia]]
| |