Abetalipoproteinemia (ABL) is a rare, autosomal recessive lipid storage disorder resulting from defective lipid assembly within the intestinal mucosa. It is characterized by the absence of apolipoprotein B (apoB-48 and apoB-100) an essential component of chylomicrons and VLDL, respectively, responsible for the transport of dietary fat from the small bowel lumen into the circulation. The defect is attributed to defective lipid transfer from the membrane of the endoplasmic reticulum to apoB due to mutations in the gene encoding a microsomal triglyceride transfer protein (MTTP). As a result, apoB-containing lipoproteins, namely, chylomicrons, and low-density and very low-density lipoproteins are absent from the patient’s bloodstream. Lipid profile reveals low total cholesterol and triglyceride levels. Infants present with failure to thrive, diarrhea, and steatorrhea. Malabsorption of fat-soluble vitamins leads to neuromuscular impairment...
References and Further Reading
- Peretti, N., Sassolas, A., Roy, C. C., Deslalndres, C., Charcosset, M., Castagnetti, J., et al. (2010). Guidelines for the diagnosis and management of chylomicron retention disease based on a review of literature and the experience of two centers. Orphanet Journal of Rare Diseases, 5, 1–24.CrossRefGoogle Scholar