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Article

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

Journal of atherosclerosis and thrombosis - 1 Nov 2024

Sasaki Kei, Tada Hayato, Komatsu Tomohiro, Terada Hisato, Endo Yasuhiro, Ikewaki Katsunori, Uehara Yoshinari

Abstract excerpt

Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)-containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del...

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Identifiers

PMID: 38749717
DOI: 10.5551/jat.64730
PMCID: PMC11537785

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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 New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.PMID 38749717Read ↗

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Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Semantic proximity Read ↗

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Semantic proximity Read ↗

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central HypothyroidismSemantic proximity Read ↗

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