Disease Information for Abetalipoproteinemia (Bassen Kornzweig): Definition

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  • A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma; Microsomal triglyceride transfer protein is deficient or absent in enterocytes; Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; Intellectual abilities may also be impaired; (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5(2):81-6)-----------------------------------------------------.Abetalipoproteinemia (Bassen-Kornzweig syndrome), due to the genetic absence of apolipoprotein B, causes serious fat malabsorption and steatorrhea, with progressive neuropathy and retinopathy in the first two decades of life; Plasma vitamin E levels are usually undetectable; Treatment: For malabsorption causing overt deficiency, 15 to 25 mg/kg/day of -tocopherol should be given po as water-miscible d- -tocopheryl acetate; Much larger doses are required to treat neuropathy early or to overcome the defect of absorption and transport in abetalipoproteinemia; Such treatment has alleviated symptoms in young patients and arrested the neuropathy in older patients; In the genetic form of vitamin E deficiency without fat malabsorption, megadoses of -tocopherol (100 to 200 IU/day) ameliorate the deficiency and prevent neurologic sequelae; [Merck Manual 17th]

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