Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease)

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter


Abetalipoproteinemia (ABL) is an autosomal recessive disease caused by mutations in the microsomal triglyceride transfer protein gene. These mutations lead to fat malabsorption, with associated vitamin E deficiency, which manifests as sensory neuropathy, pigmentary retinopathy, and acanthocytosis. Treatment with vitamin E is effective in managing the neuropathy if instituted early, but the retinopathy may not be reversible or preventable. Hypo-. β-lipoproteinemia is clinically very similar to ABL but results from mutations in several unrelated genes.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages2
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • Abetalipoproteinemia
  • Acanthocytes
  • Apolipoprotein B
  • Hypo-β-lipoproteinemia
  • Microsomal triglyceride transfer protein
  • Nyctalopia
  • Pigmentary retinopathy
  • Sensory neuropathy
  • Steatorrhea
  • Vitamin E

ASJC Scopus subject areas

  • Medicine(all)


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