Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease)

M. C. Patterson

doi:10.1016/B978-0-12-385157-4.00095-6

Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease)

M. C. Patterson

Neurology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier Inc.
Pages	5-6
Number of pages	2
ISBN (Electronic)	9780123851574
ISBN (Print)	9780123851581
DOIs	https://doi.org/10.1016/B978-0-12-385157-4.00095-6
State	Published - 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

General Medicine

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10.1016/B978-0-12-385157-4.00095-6

Cite this

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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.",

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

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AB - 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.

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KW - Acanthocytes

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KW - Pigmentary retinopathy

KW - Sensory neuropathy

KW - Steatorrhea

KW - Vitamin E

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Abetalipoproteinemia (ABL, Bassen-Kornzweig Disease)

Abstract

Keywords

ASJC Scopus subject areas

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