无 β 脂蛋白血症

全球大约有100例患者被诊断为这种疾病。[1]Kayden HJ, Traber MG. Abetalipoproteinemia and homozygous hypobetalipoproteinemia. In: Steiner G, Shafrir E, eds. Primary hyperlipoproteinemias. New York, NY: McGraw Hill Inc.; 1991:249-270.[2]Kayden HJ. The genetic basis of vitamin E deficiency in humans. Nutrition. 2001;17:797-798.http://www.ncbi.nlm.nih.gov/pubmed/11684382?tool=bestpractice.com大多数病例为具有德裔犹太人血统的患者。然而，在其他种族中也发现了无β脂蛋白血症的病例。[5]Benayoun L, Granot E, Rizel L, et al. Abetalipoproteineima in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Molec Genet Metab. 2007;90:453-457.http://www.ncbi.nlm.nih.gov/pubmed/17275380?tool=bestpractice.com