Helpful Information
What is Abetalipoproteinemia?
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). There are approximately 100 to 120 cases worldwide.
Where can I find out more?
The National Institute of Health has a good website, HERE and NORD has one HERE. All links open in a new window. Other links, including links to medical journals, are below.
Letters to Doctors:
These are links to documents you can download for your doctors:
01/ Internet Sites
Abetalipoproteinemia. Genetic and Rare Diseases Information Center, August 2019. Available at: https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia Accessed August 20, 2019.
Chylomicron Retention Disease. Genetics Home Reference, August 2018. Available at: https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease Accessed August 20, 2019.
Chylomicron Retention Disease. Genetic and Rare Diseases Information Center, March 2011. Available at: https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease Accessed August 20, 2019.
Familial hypobetalipoproteinemia. Genetics Home Reference, August 2012. Available at: https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia# Accessed August 20, 2019.
Familial Hypobetalipoproteinemia. Genetic and Rare Diseases Information Center, June 2015. Available at: https://rarediseases.info.nih.gov/diseases/2876/familial-hypobetalipoproteinemia Accessed August 20, 2019.
02/ Journal Articles
New Classification and Management of Abetalipoproteinemia and Related Disorders
Newly published!Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR. The role of microsomal triglyceride transfer protein in abetalipoproteinemia. Annu Rev Nutr. 2000;20:663-97. http://www.ncbi.nlm.nih.gov/pubmed/10940349
Burnett JR1, Bell DA, Hooper AJ, Hegele RA. Clinical utility gene card for: Abetalipoproteinaemia--Update 2014. Eur J Hum Genet. 2015 Jun;23(6).
Burnett JR, Hooper AJ. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. Free Radic Biol Med. 2015 Nov;88(Pt A):59-62. https://www.sciencedirect.com/science/article/pii/S0891584915002671?via%3Dihub
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, Di Filippo M, Laveille C, Michalski MC, Poinsot P, Caussy C, Sassolas A, Moulin P, Reboul E, Charriere S, Levy E, Lachaux A, Peretti N. Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. J Lipid Res. 2018 Sep;59(9):1640-1648. http://www.jlr.org/content/59/9/1640.long
Cuerq C, Restier L, Drai J, Blond E, Roux A, Charriere S, Michalski MC, Di Filippo M, Levy E, Lachaux A, Peretti N. Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. Orphanet J Rare Dis. 2016 Aug 12;11(1):114. https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0498-8
Hussain MM, Rava P, Walsh M, Rana M, Iqbal J. Multiple functions of microsomal triglyceride transfer protein. Nutr Met. 2012; 9:14. http://www.ncbi.nlm.nih.gov/pubmed/22353470
Lee, J. & Hegele, R. A. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J. Inherit. Metab. Dis. 2014 May;37(3):333-9. http://www.ncbi.nlm.nih.gov/pubmed/24288038
Levy E, Poinsot P, Spahis S. Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. Curr Opin Lipidol. 2019 Apr;30(2):134-139. https://www.ncbi.nlm.nih.gov/pubmed/30640893
Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem. 2011;54:81-107. https://www.ncbi.nlm.nih.gov/pubmed/21874758