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Article

A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.

Journal of clinical lipidology - 1 Jan 2000

Paquette Martine, Dufour Robert, Hegele Robert A, Baass Alexis

Abstract excerpt

Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by mutations of the MTTP gene. This disease is characterised by a defect in the lipidation of APO B and the absence of VLDL and chylomicron production. Patients affected by ABL present neurological, hemalogical and gastro-intestinal symptoms due to deficiency in lipophilic vitamins and fat malabsorption. We herein report the case of two...

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Identifiers

PMID: 27578136
DOI: 10.1016/j.jacl.2016.01.003

Genes

MTTP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.PMID 27578136Read ↗

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