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abetalipoproteinemia
Used for:
acanthocytosis
Used for:
Bassen Kornzweig syndrome
Used for:
betalipoprotein deficiency disease
Used for:
hypobetalipoproteinemia
Used for:
microsomal triglyceride transfer protein deficiency disease
Broader Terms:
familial hypolipoproteinemia
Related Terms:
autosomal recessive trait
Scope Note:
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.
Term Number:
1849-5137
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