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| 1 | Catherine Yang | + 558 word(s) | 558 | 2020-12-15 07:14:34 |
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Yang, C. Abetalipoproteinemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4366 (accessed on 26 September 2026).
Yang C. Abetalipoproteinemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4366. Accessed September 26, 2026.
Yang, Catherine. "Abetalipoproteinemia" Encyclopedia, https://encyclopedia.pub/entry/4366 (accessed September 26, 2026).
Yang, C. (2020, December 23). Abetalipoproteinemia. In Encyclopedia. https://encyclopedia.pub/entry/4366
Yang, Catherine. "Abetalipoproteinemia." Encyclopedia. Web. 23 December, 2020.
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Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
genetic conditions
References
- Hooper AJ, van Bockxmeer FM, Burnett JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci.2005;42(5-6):515-45. Review.
- Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia:a framework for diagnosis and management. J Inherit Metab Dis. 2014May;37(3):333-9. doi: 10.1007/s10545-013-9665-4.
- Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM,Calandra S, Slimene NM, Tarugi P. Novel mutations in SAR1B and MTTP genes inTunisian children with chylomicron retention disease and abetalipoproteinemia.Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117.
- Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol.2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. Review.
- Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008 Jul 8;3:19. doi:10.1186/1750-1172-3-19. Review.
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