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Can Med Assoc J. 1985 Jan 1; 132(1): 41–44.
PMCID: PMC1346503

Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy.


A 16-year-old girl, one of dizygotic twins, presented in 1976 complaining of a 1-year history of a lack of coordination and an inability to run. The results of biochemical tests confirmed the diagnosis of classic abetalipoproteinemia. In addition to the recognized neurologic features of this disorder, she had a reduced evoked motor unit potential and markedly elevated serum levels of muscle enzymes, which suggested myositis. The serum vitamin E level was markedly decreased. Oral therapy with vitamin E, 800 mg daily, was begun, and in 1981 the dosage was increased to 3200 mg daily. Over the 7 years of follow-up she improved clinically, there was an increase in the evoked motor unit potential, the serum levels of some of the muscle enzymes decreased to normal, and the serum and tissue vitamin E levels increased significantly. It was concluded that treatment with high doses of vitamin E was responsible for the arrest of the usually progressive neuropathy and myopathy.

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  • BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950 Apr;5(4):381–387. [PubMed]
  • Kayden HJ. Abetalipoproteinemia. Annu Rev Med. 1972;23:285–296. [PubMed]
  • Kayden HJ, Hatam LJ, Traber MG. The measurement of nanograms of tocopherol from needle aspiration biopsies of adipose tissue: normal and abetalipoproteinemic subjects. J Lipid Res. 1983 May;24(5):652–656. [PubMed]
  • Miller RG, Davis CJ, Illingworth DR, Bradley W. The neuropathy of abetalipoproteinemia. Neurology. 1980 Dec;30(12):1286–1291. [PubMed]
  • Rosenblum JL, Keating JP, Prensky AL, Nelson JS. A progressive neurologic syndrome in children with chronic liver disease. N Engl J Med. 1981 Feb 26;304(9):503–508. [PubMed]
  • Elias E, Muller DP, Scott J. Association of spinocerebellar disorders with cystic fibrosis or chronic childhood cholestasis and very low serum vitamin E. Lancet. 1981 Dec 12;2(8259):1319–1321. [PubMed]
  • Sung JH, Park SH, Mastri AR, Warwick WJ. Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy. J Neuropathol Exp Neurol. 1980 Sep;39(5):584–597. [PubMed]
  • Machlin LJ, Filipski R, Nelson J, Horn LR, Brin M. Effects of a prolonged vitamin E deficiency in the rat. J Nutr. 1977 Jul;107(7):1200–1208. [PubMed]
  • Nelson JS, Fitch CD, Fischer VW, Broun GO, Jr, Chou AC. Progressive neuropathologic lesions in vitamin E-deficient rhesus monkeys. J Neuropathol Exp Neurol. 1981 Mar;40(2):166–186. [PubMed]
  • Muller DP, Lloyd JK, Bird AC. Long-term management of abetalipoproteinaemia. Possible role for vitamin E. Arch Dis Child. 1977 Mar;52(3):209–214. [PMC free article] [PubMed]
  • Azizi E, Zaidman JL, Eshchar J, Szeinberg A. Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides. Acta Paediatr Scand. 1978 Nov;67(6):796–801. [PubMed]
  • Muller DP, Lloyd JK. Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. Ann N Y Acad Sci. 1982;393:133–144. [PubMed]
  • Tomasi LG. Reversibility of human myopathy caused by vitamin E deficiency. Neurology. 1979 Aug;29(8):1182–1186. [PubMed]
  • Diplock AT. The biological function of vitamin E and the nature of the interaction of the vitamin with selenium. World Rev Nutr Diet. 1978;31:178–183. [PubMed]
  • Illingworth DR, Connor WE, Miller RG. Abetalipoproteinemia. Report of two cases and review of therapy. Arch Neurol. 1980 Oct;37(10):659–662. [PubMed]
  • Bieri JG, Hoeg JM, Schaefer EJ, Zech LA, Brewer HB., Jr Vitamin A and vitamin E replacement in abetalipoproteinemia. Ann Intern Med. 1984 Feb;100(2):238–239. [PubMed]
  • Sokol RJ, Heubi JE, Iannaccone ST, Bove KE, Balistreri WF. Vitamin E deficiency with normal serum vitamin E concentrations in children with chronic cholestasis. N Engl J Med. 1984 May 10;310(19):1209–1212. [PubMed]

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