Abstract

Rationale: Chylomicron retention disease (CMRD) is a rare recessive inborn disorders of lipoprotein metabolism due to mutations in the Microsomal Triglyceride Transfer Protein (MTTP) gene. Intestinal malabsorption of lipids and fat-soluble vitamins (A, D, E, K) due to the lack of secretion of chylomicrons causes neurological complications. Supplementation in large doses is essential to prevent them. However, serum vitamin E levels are never fully restored. To understand these persistent low levels, previous studies were performed on Mttp-KO mice.

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