Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease)

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.
Pages5-6
Number of pages2
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

  • 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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