chylomicron retention disease
An autosomal recessive disorder (OMIM:246700) of severe fat malabsorption associated with failure to thrive in infancy, and deficiency of fat-soluble vitamins, low serum cholesterol, and selective absence of chylomicrons in serum. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.
Molecular pathology Defects in SAR1B, which encodes a protein involved in transport from the endoplasmic reticulum to the Golgi apparatus, cause chylomicron retention disease.
Synonyms ANDD, Anderson disease, CMRD, hypolipiproteinaemia with accumulation of apolipoprotein B-like protein in intestinal cells, lipid transport defect of intestine