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Review information on Abetalipoproteinemia Treatments.
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)
- (Source - Diseases Database)
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.
- (Source - CRISP)
Abetalipoproteinemia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Abetalipoproteinemia, or a subtype of Abetalipoproteinemia,
affects less than 200,000 people in the US population.
- (Source - National Institute of Health)
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