Chylomicron retention disease is a disorder of fat absorption.[1] It is associated with SAR1B.[2] Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems.[3] It is a rare autosomal recessive disorder with around 40 cases reported worldwide. Since the disease allele is recessive, parents usually do not show symptoms.[3]
Without functional chylomicrons, certain fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed. Chylomicrons have a crucial role in fat absorption and transport, thus a deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins.[3]
^Roy CC, Levy E, Green PH, et al. (February 1987). "Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease". Gastroenterology. 92 (2): 390–9. doi:10.1016/0016-5085(87)90133-8. PMID 3792776.
^Jones B, Jones EL, Bonney SA, et al. (May 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. S2CID 10543077.
Chylomicronretentiondisease is a disorder of fat absorption. It is associated with SAR1B. Mutations in SAR1B prevent the release of chylomicrons in the...
mutations in SAR1B and MTTP genes in Tunisian children with chylomicronretentiondisease and abetalipoproteinemia". Gene. 512 (1): 28–34. doi:10.1016/j...
SAR1B variants results in Chylomicronretentiondisease, and loss of Sar1B causes a combination of chylomicronretentiondisease and the neuromuscular disorder...
transfer protein which causes abetalipoproteinemia. A third form, chylomicronretentiondisease (CRD), is associated with SARA2. Typically in hypobetalipoproteinemia...
risk of atherosclerotic cardiovascular disease. Apolipoprotein B is the primary apolipoprotein of chylomicrons, VLDL, Lp(a), IDL, and LDL particles (LDL—commonly...
identified as the chylomicronretentiondisease which also bears her name (Anderson's disease) She studied the role of gluten in coeliac disease and worked to...
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