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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.
- 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