通常在出生后几个月内发病，表现为发育停滞、腹泻，以及脂肪泻。
阅读更多为一种罕见的疾病；由于症状不典型而经常误认为是病毒性胃肠炎或由于虐待儿童造成的。
若不进行治疗，这种疾病会渐进加重并且导致神经系统的退化。
在治疗后，白内障、视网膜变性或共济失调等后遗症都可能避免。
补充营养，包括低脂饮食以及摄入脂溶性维生素，对患者的管理至关重要。
无β脂蛋白血症是一种罕见的、由微粒体甘油三酯转运蛋白缺陷所引起的常染色体隐性遗传病。[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[3]Narcisi TM, Shoulders CC, Chester SA, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995;57:1298-1310.http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8533758http://www.ncbi.nlm.nih.gov/pubmed/8533758?tool=bestpractice.com[4]Wetterau JR, Aggerbeck LP, Bouma ME, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992;258:999-1001.http://www.ncbi.nlm.nih.gov/pubmed/1439810?tool=bestpractice.com[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[6]Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, et al. The role of the microsomal transfer protein in abetalipoproteinemia. Ann Rev Nutr. 2000;20:663-697.http://www.ncbi.nlm.nih.gov/pubmed/10940349?tool=bestpractice.com[7]Gregg RE, Wetterau JR. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994;5:81-86.http://www.ncbi.nlm.nih.gov/pubmed/8044420?tool=bestpractice.com[8]Du EZ, Wang SL, Kayden HJ, et al. Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. J Lipid Res. 1996;37:1309-1315.http://www.jlr.org/cgi/reprint/37/6/1309http://www.ncbi.nlm.nih.gov/pubmed/8808765?tool=bestpractice.com结果是，细胞的脂质转运遭到破坏，引起脂肪吸收不良的临床症状（即脂肪泻，腹泻）和最终的消瘦，通常发生于婴儿期和儿童期。[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脂肪、胆固醇、以及脂溶性维生素A、E、K等吸收不良，导致营养缺乏。及早发现并治疗，则可以改善患者的营养状况并且避免发生后遗症。若未进行治疗，脊髓小脑束和背束的退行性变可导致维生素E缺乏。不可逆的影响包括共济失调、周围神经病、以及视网膜变性。[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[9]Kayden HJ. The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia. Neurology. 1993;43:2167-2169.http://www.ncbi.nlm.nih.gov/pubmed/8232922?tool=bestpractice.com[10]Chowers I, Banin E, Merin S, et al. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye. 2001;15:525-530.http://www.ncbi.nlm.nih.gov/pubmed/11767031?tool=bestpractice.com
