Chylomicron retention disease
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.