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

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

Authors :
Sasaki K
Tada H
Komatsu T
Terada H
Endo Y
Ikewaki K
Uehara Y
Source :
Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2024 Nov 01; Vol. 31 (11), pp. 1634-1640. Date of Electronic Publication: 2024 May 14.
Publication Year :
2024

Abstract

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 [p.Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extremely reduced low-density lipoprotein cholesterol levels and a fatty liver, he did not exhibit other typical complications. Furthermore, unlike typical ABL, this patient had a preserved apoB-48 secretion and increased concentrations of high-density lipoprotein cholesterol, which may account for the normal serum fat-soluble vitamin levels.

Details

Language :
English
ISSN :
1880-3873
Volume :
31
Issue :
11
Database :
MEDLINE
Journal :
Journal of atherosclerosis and thrombosis
Publication Type :
Academic Journal
Accession number :
38749717
Full Text :
https://doi.org/10.5551/jat.64730