- Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Treatment of abetalipoproteinemia includes dietary restriction of triglycerides, supplementation with medium-chain triglycerides, and supplementation of lipid-soluble vitamins A, D, E, and K in high doses. Occasionally, patients have associated iron or folic acid deficiencies, necessitating supplementation with oral iron and folic acid.
Vitamins and Cofactors
These agents are organic substances required by the body in small amounts for various metabolic processes. They are classified as fat-soluble or water-soluble. Vitamins A, D, E, and K are fat-soluble; biotin, folic acid, niacin, pantothenic acid, the B vitamins (ie, B-1, B-2, B-6, B-12), and vitamin C are generally water-soluble. These agents are clinically used for the prevention and treatment of specific vitamin-deficiency states.
Required for bone development, growth, night vision, and gonadal function and is a biochemical cofactor.
Vitamin D stimulates the absorption of calcium and phosphate from the intestines and decreases bone resorption.
Vitamin E protects polyunsaturated fatty acids in membranes from free radical injury and stabilizes RBC membranes. Nutr-E-Sol is a specially formulated vitamin E complexed with polyethylene glycol 1000 succinate to allow direct absorption without biliary emulsification. This is the formulation of choice for vitamin E–replacement therapy in patients with cholestasis. The formulation contains 400 IU vitamin E/15 mL.
Vitamin K-1 is necessary for the production of clotting factors II, VII, IX, and X by serving as a cofactor during carboxylation of glutamic acid residues.
Important cofactor for enzymes used in production of RBCs.
These agents are inorganic substances found in small amounts in the tissues and are required for various metabolic processes.
A nutritionally essential inorganic substance. Polysaccharide-iron complex is a product that contains ferric iron. 150 mg equals 150 mg of elemental iron. Also available as elixir containing 100 mg elemental iron per 5 mL.
Nasr MB, Symeonidis C, Mikropoulos DG, Kozeis N, Tsinopoulos I, Dimitrakos SA, et al. Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. Eur J Ophthalmol. 2011 Sep-Oct. 21(5):674-6. [Medline].
Adjobo-Hermans MJ, Cluitmans JC, Bosman GJ. Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes. Tremor Other Hyperkinet Mov (N Y). 2015. 5:328. [Medline]. [Full Text].
Alexopoulou A, Vasilieva L, Kanellopoulou T, Pouriki S, Soultati A, Dourakis SP. Presence of spur cells as a highly predictive factor of mortality in patients with cirrhosis. J Gastroenterol Hepatol. 2014 Apr. 29 (4):830-4. [Medline].
Wimer BM, Marsh WL, Taswell HF, Galey WR. Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol. 1977 Jun. 36(2):219-24. [Medline].
Bertelson CJ, Pogo AO, Chaudhuri A, Marsh WL, Redman CM, Banerjee D, et al. Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet. 1988 May. 42(5):703-11. [Medline]. [Full Text].
Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Hayashi T, Sasaki N, et al. Chorein, the protein responsible for chorea-acanthocytosis, interacts with ß-adducin and ß-actin. Biochem Biophys Res Commun. 2013 Oct 12. [Medline].
Young SG, Bertics SJ, Curtiss LK, Dubois BW, Witztum JL. Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. J Clin Invest. 1987 Jun. 79(6):1842-51. [Medline]. [Full Text].
Shah JR, Patkar DP, Kamat RN. A case of McLeod phenotype of neuroacanthocytosis brain MR features and literature review. Neuroradiol J. 2013 Feb. 26(1):21-6. [Medline].
Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950 Apr. 5(4):381-87. [Medline].
Branch DR, Gaidulis L, Lazar GS. Human granulocytes lack red cell Kx antigen. Br J Haematol. 1986 Apr. 62(4):747-55. [Medline].
Smith KM, Spindler MA. Uncommon applications of deep brain stimulation in hyperkinetic movement disorders. Tremor Other Hyperkinet Mov (N Y). 2015. 5:278. [Medline].
Bohlega S, Al-Jishi A, Dobson-Stone C, et al. Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord. 2003 Apr. 18(4):403-7. [Medline].
Calenda G, Peng J, Redman CM, Sha Q, Wu X, Lee S. Identification of two new members, XPLAC and XTES, of the XK family. Gene. 2006 Mar 29. 370:6-16. [Medline].
Danek A, Jung HH, Melone MA, et al. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci. 2005 Mar 15. 229-230:171-86. [Medline].
Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002 Nov. 10(11):773-81. [Medline].
Dobson-Stone C, Velayos-Baeza A, Jansen A, et al. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 2005 Sep. 6(3):151-8. [Medline].
Henkel K, Danek A, Grafman J, Butman J, Kassubek J. Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov Disord. 2006 Oct. 21(10):1728-31. [Medline].
Kapff CT, Jandl JH. Acanthocytes. Spur cells. Burr cells. Blood: Atlas and Sourcebook of Hematology. 2nd ed. Baltimore, MD: Lippincott, Williams & Wilkins; 1991. 46.
Muller-Vahl KR, Berding G, Emrich HM, Peschel T. Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and (123)I-beta-CIT-SPECT. J Neurol. 2007 Aug. 254(8):1081-8. [Medline].
Peng J, Redman CM, Wu X, Song X, Walker RH, Westhoff CM. Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. Gene. 2007 May 1. 392(1-2):142-50. [Medline].
Saiki S, Sakai K, Murata KY, Saiki M, Nakanishi M, Kitagawa Y. Primary skeletal muscle involvement in chorea-acanthocytosis. Mov Disord. 2007 Apr 30. 22(6):848-52. [Medline].
Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis. 2007 Dec. 195(2):e19-27. [Medline].
Velayos-Baeza A, Vettori A, Copley RR, et al. Analysis of the human VPS13 gene family. Genomics. 2004 Sep. 84(3):536-49. [Medline].