Disease Information for Abetalipoproteinemia (Bassen Kornzweig) (Clinical Manifestations)

Abetalipoproteinaemia, abetalipoproteinemia, Abetalipoproteinemia (disorder), Abetalipoproteinemia neuropathy, ABL, ABL Abetalipoproteinaemia, ABL Abetalipoproteinemia, ACANTHOCYTOSIS, APOLIPOPROTEIN B DEFICIENCY, Bassen Kornzweig, BASSEN KORNZWEIG DIS, Bassen Kornzweig Disease, Bassen Kornzweig syndrome, betalipoprotein deficiency disease, Congenital betalipoprotein deficiency syndrome, Famil hypobetalipoproteinaemia, Famil hypobetalipoproteinemia, Familial hypobetalipoproteinaemia, Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia (disorder), MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFIC, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFIC DIS, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, microsomal triglyceride transfer protein deficiency disease, MTP DEFICIENCY

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]<br>

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