[disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein 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. ( CSP )]
UMLS (CSP) C0000744